Canonical Allele Identifier: CA114873
Gene: HGSNAT HGNC NCBI

Linked Data

ClinVar Variation Id: 1238
dbSNP Id: rs121908286
gnomAD v2: 8-43052825-C-T
gnomAD v3: 8-43197682-C-T
gnomAD v4: 8-43197682-C-T

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.43197682C>T , CM000670.2:g.43197682C>T GRCh38
NC_000008.10:g.43052825C>T , CM000670.1:g.43052825C>T GRCh37
NC_000008.9:g.43171982C>T NCBI36
NG_009552.1:g.62234C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000379644.9:c.1553C>T MANE Select ENSP00000368965.4:p.Ser518Phe
ENST00000379644.8:c.1553C>T ENSP00000368965.4:p.Ser518Phe
ENST00000519705.1:n.869C>T
ENST00000521576.1:c.704C>T ENSP00000429029.1:p.Ser235Phe
ENST00000523989.1:n.1866C>T
NM_152419.2:c.1553C>T NP_689632.2:p.Ser518Phe
XM_005273409.1:c.1664C>T XP_005273466.1:p.Ser555Phe
XM_005273410.1:c.1640C>T XP_005273467.1:p.Ser547Phe
XM_005273411.1:c.1472C>T XP_005273468.1:p.Ser491Phe
NM_001363227.1:c.1640C>T NP_001350156.1:p.Ser547Phe
NM_001363228.1:c.1361C>T NP_001350157.1:p.Ser454Phe
NM_001363229.1:c.689C>T NP_001350158.1:p.Ser230Phe
NM_152419.3:c.1553C>T MANE Select NP_689632.2:p.Ser518Phe
NM_001363227.2:c.1640C>T NP_001350156.1:p.Ser547Phe
NM_001363228.2:c.1361C>T NP_001350157.1:p.Ser454Phe
NM_001363229.2:c.689C>T NP_001350158.1:p.Ser230Phe