Canonical Allele Identifier: CA400747353
Community Standard Title: NM_001267727.2(ARSG):c.1212+1G>A
Gene: ARSG HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.68395194G>A , CM000679.2:g.68395194G>A GRCh38
NC_000017.10:g.66391335G>A , CM000679.1:g.66391335G>A GRCh37
NC_000017.9:g.63902930G>A NCBI36
NG_032814.1:g.141013G>A
NG_032814.2:g.141106G>A

Transcript Alleles

HGVS Amino-acid Change
NM_001267727.2:c.1212+1G>A MANE Select NP_001254656.1:n.1212+1G>A
ENST00000621439.5:c.1212+1G>A MANE Select ENSP00000480910.1:n.1212+1G>A
NM_001267727.1:c.1212+1G>A NP_001254656.1:n.1212+1G>A
NM_001352899.1:c.1212+1G>A NP_001339828.1:n.1212+1G>A
NM_001352899.2:c.1212+1G>A NP_001339828.1:n.1212+1G>A
NM_001352900.1:c.1212+1G>A NP_001339829.1:n.1212+1G>A
NM_001352900.2:c.1212+1G>A NP_001339829.1:n.1212+1G>A
NM_001352901.1:c.1212+1G>A NP_001339830.1:n.1212+1G>A
NM_001352901.2:c.1212+1G>A NP_001339830.1:n.1212+1G>A
NM_001352902.1:c.1212+1G>A NP_001339831.1:n.1212+1G>A
NM_001352902.2:c.1212+1G>A NP_001339831.1:n.1212+1G>A
NM_001352903.1:c.1209+1G>A NP_001339832.1:n.1209+1G>A
NM_001352903.2:c.1209+1G>A NP_001339832.1:n.1209+1G>A
NM_001352904.1:c.1209+1G>A NP_001339833.1:n.1209+1G>A
NM_001352904.2:c.1209+1G>A NP_001339833.1:n.1209+1G>A
NM_001352905.1:c.1209+1G>A NP_001339834.1:n.1209+1G>A
NM_001352905.2:c.1209+1G>A NP_001339834.1:n.1209+1G>A
NM_001352906.1:c.1209+1G>A NP_001339835.1:n.1209+1G>A
NM_001352906.2:c.1209+1G>A NP_001339835.1:n.1209+1G>A
NM_001352907.1:c.1209+1G>A NP_001339836.1:n.1209+1G>A
NM_001352907.2:c.1209+1G>A NP_001339836.1:n.1209+1G>A
NM_001352909.1:c.1164+1G>A NP_001339838.1:n.1164+1G>A
NM_001352909.2:c.1164+1G>A NP_001339838.1:n.1164+1G>A
NM_001352910.1:c.1212+1G>A NP_001339839.1:n.1212+1G>A
NM_001352910.2:c.1212+1G>A NP_001339839.1:n.1212+1G>A
NM_014960.4:c.1212+1G>A NP_055775.2:n.1212+1G>A
NM_014960.5:c.1212+1G>A NP_055775.2:n.1212+1G>A
ENST00000448504.6:c.1212+1G>A ENSP00000407193.2:n.1212+1G>A
ENST00000452479.6:c.720+1G>A ENSP00000413953.2:n.720+1G>A
ENST00000582154.5:n.970+1G>A
ENST00000621439.4:c.1212+1G>A ENSP00000480910.1:n.1212+1G>A
XM_005257170.2:c.1212+1G>A XP_005257227.1:n.1212+1G>A
XM_006721777.2:c.1212+1G>A XP_006721840.2:n.1212+1G>A
XM_011524535.1:c.1212+1G>A XP_011522837.1:n.1212+1G>A
XM_011524536.1:c.1212+1G>A XP_011522838.1:n.1212+1G>A
XM_011524536.2:c.1212+1G>A XP_011522838.1:n.1212+1G>A
XM_011524537.1:c.1212+1G>A XP_011522839.1:n.1212+1G>A
XM_011524538.1:c.1212+1G>A XP_011522840.1:n.1212+1G>A
XM_011524539.1:c.1212+1G>A XP_011522841.1:n.1212+1G>A
XM_011524540.1:c.1209+1G>A XP_011522842.1:n.1209+1G>A
XM_011524541.1:c.1212+1G>A XP_011522843.1:n.1212+1G>A
XM_011524542.1:c.1212+1G>A XP_011522844.1:n.1212+1G>A
XM_011524543.1:c.1092-6166G>A XP_011522845.1:n.1092-6166G>A
XM_011524544.1:c.1092-6166G>A XP_011522846.1:n.1092-6166G>A
XM_011524545.1:c.1092-6166G>A XP_011522847.1:n.1092-6166G>A
XM_011524546.1:c.465+1G>A XP_011522848.1:n.465+1G>A
XM_011524546.2:c.465+1G>A XP_011522848.1:n.465+1G>A
XM_017024360.2:c.1212+1G>A XP_016879849.1:n.1212+1G>A
XM_017024365.1:c.1212+1G>A XP_016879854.1:n.1212+1G>A
XM_017024368.1:c.1092-6166G>A XP_016879857.1:n.1092-6166G>A
XM_024450658.1:c.720+1G>A XP_024306426.1:n.720+1G>A
XR_934425.1:n.4031+1G>A