Canonical Allele Identifier: CA10631133
Gene: HGSNAT HGNC NCBI
MyVariant.info:
GRCh38 chr8:g.43140604G>A
GRCh37 chr8:g.42995747G>A
gnomAD v2:
8:42995747 G / A
gnomAD v3:
8:43140604 G / A
gnomAD v4:
chr8-43140604-G-A
Joint Max Group AF 0.00079087 (NFE)
Genomes Max Group AF 0.00056269 (NFE)
Exomes Max Group AF 0.00079808 (NFE)
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Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.43140604G>A , CM000670.2:g.43140604G>A GRCh38
NC_000008.10:g.42995747G>A , CM000670.1:g.42995747G>A GRCh37
NC_000008.9:g.43114904G>A NCBI36
NG_009552.1:g.5156G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000379644.9:c.108G>A MANE Select ENSP00000368965.4:p.Ala36=
ENST00000379644.8:c.108G>A ENSP00000368965.4:p.Ala36=
ENST00000517319.1:c.108G>A ENSP00000430032.1:p.Ala36=
ENST00000520704.1:c.-43G>A ENSP00000429109.1:n.-43G>A
NM_152419.2:c.108G>A NP_689632.2:p.Ala36=
XM_005273409.1:c.108G>A XP_005273466.1:p.Ala36=
XM_005273410.1:c.108G>A XP_005273467.1:p.Ala36=
XM_005273411.1:c.108G>A XP_005273468.1:p.Ala36=
XM_005273412.2:c.108G>A XP_005273469.1:p.Ala36=
NM_001363227.1:c.108G>A NP_001350156.1:p.Ala36=
NM_001363228.1:c.108G>A NP_001350157.1:p.Ala36=
NM_001363229.1:c.-726G>A NP_001350158.1:n.-726G>A
XM_005273412.4:c.108G>A XP_005273469.1:p.Ala36=
NM_152419.3:c.108G>A MANE Select NP_689632.2:p.Ala36=
NM_001363227.2:c.108G>A NP_001350156.1:p.Ala36=
NM_001363228.2:c.108G>A NP_001350157.1:p.Ala36=
NM_001363229.2:c.-726G>A NP_001350158.1:n.-726G>A
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