Canonical Allele Identifier: CA3318279
Gene: ARSB HGNC NCBI

Linked Data

dbSNP Id: rs544246762
gnomAD v2: 5-78264936-T-A
gnomAD v3: 5-78969113-T-A
gnomAD v4: 5-78969113-T-A

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.78969113T>A , CM000667.2:g.78969113T>A GRCh38
NC_000005.9:g.78264936T>A , CM000667.1:g.78264936T>A GRCh37
NC_000005.8:g.78300692T>A NCBI36
NG_007089.1:g.22422A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000264914.10:c.392A>T MANE Select ENSP00000264914.4:p.Gln131Leu
ENST00000565165.2:c.392A>T ENSP00000456339.2:p.Gln131Leu
ENST00000264914.8:c.392A>T ENSP00000264914.4:p.Gln131Leu
ENST00000396151.7:c.392A>T ENSP00000379455.3:p.Gln131Leu
ENST00000565165.1:c.392A>T ENSP00000456339.1:p.Gln131Leu
NM_000046.3:c.392A>T NP_000037.2:p.Gln131Leu
NM_198709.2:c.392A>T NP_942002.1:p.Gln131Leu
XM_005248506.3:c.392A>T XP_005248563.1:p.Gln131Leu
XM_006714615.2:c.392A>T XP_006714678.1:p.Gln131Leu
XM_011543390.1:c.392A>T XP_011541692.1:p.Gln131Leu
XM_011543391.1:c.392A>T XP_011541693.1:p.Gln131Leu
XM_011543392.1:c.392A>T XP_011541694.1:p.Gln131Leu
XM_011543393.1:c.392A>T XP_011541695.1:p.Gln131Leu
NM_000046.4:c.392A>T NP_000037.2:p.Gln131Leu
XM_011543391.3:c.392A>T XP_011541693.1:p.Gln131Leu
XM_011543392.3:c.392A>T XP_011541694.1:p.Gln131Leu
XM_011543393.2:c.392A>T XP_011541695.1:p.Gln131Leu
XM_017009471.2:c.392A>T XP_016864960.1:p.Gln131Leu
XR_001742065.2:n.463A>T
XR_001742066.2:n.463A>T
NM_000046.5:c.392A>T MANE Select NP_000037.2:p.Gln131Leu
NM_198709.3:c.392A>T NP_942002.1:p.Gln131Leu