Canonical Allele Identifier: CA2210149777
Community Standard Title: NM_001171.6(ABCC6):c.1964A= (p.Gln655=)
Gene: ABCC6 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.16182910T= , CM000678.2:g.16182910T= GRCh38
NC_000016.9:g.16276767T= , CM000678.1:g.16276767T= GRCh37
NC_000016.8:g.16184268T= NCBI36
NG_007558.2:g.45562A=
NG_007558.3:g.45708A=

Transcript Alleles

HGVS Amino-acid Change
NM_001171.6:c.1964A= MANE Select NP_001162.5:p.Gln655=
ENST00000205557.12:c.1964A= MANE Select ENSP00000205557.7:p.Gln655=
NM_001171.5:c.1964A= NP_001162.4:p.Gln655=
NM_001351800.1:c.1622A= NP_001338729.1:p.Gln541=
NR_147784.1:n.2001A=
ENST00000205557.11:c.1964A= ENSP00000205557.7:p.Gln655=
ENST00000456970.6:c.1964A= ENSP00000405002.2:p.Gln655=
ENST00000574094.5:n.2040-985A=
ENST00000622290.4:c.1964A= ENSP00000483331.1:p.Gln655=
ENST00000622290.5:c.1964A= ENSP00000483331.2:p.Gln655=
XM_011522479.1:c.1964A= XP_011520781.1:p.Gln655=
XM_011522479.2:c.1964A= XP_011520781.1:p.Gln655=
XM_011522480.1:c.1622A= XP_011520782.1:p.Gln541=
XM_011522481.1:c.1622A= XP_011520783.1:p.Gln541=
XM_011522481.3:c.1622A= XP_011520783.1:p.Gln541=
XM_011522482.1:c.1964A= XP_011520784.1:p.Gln655=
XM_011522482.3:c.1964A= XP_011520784.1:p.Gln655=
XM_017023212.1:c.1964A= XP_016878701.1:p.Gln655=
XM_017023214.1:c.1964A= XP_016878703.1:p.Gln655=
XM_024450261.1:c.2000A= XP_024306029.1:p.Gln667=
XR_932836.1:n.2199A=
XR_932836.2:n.2145A=
XR_932837.1:n.2200A=
XR_932837.3:n.2145A=
XR_932838.1:n.2200A=
XR_932838.3:n.2145A=