Canonical Allele Identifier: CA851975165

Gene: HGSNAT

Linked Data

• dbSNP Id: rs1202371157
• gnomAD v3: 8-43200711-T-G
• gnomAD v4: 8-43200711-T-G
• MyVariant Identifiers: chr8:g.43055854T>G (hg19) ; chr8:g.43200711T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.43200711T>G , CM000670.2:g.43200711T>G	GRCh38
NC_000008.10:g.43055854T>G , CM000670.1:g.43055854T>G	GRCh37
NC_000008.9:g.43175011T>G	NCBI36
NG_009552.1:g.65263T>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000379644.9:c.*1142T>G MANE Select	ENSP00000368965.4:n.*1142T>G
ENST00000379644.8:c.*1142T>G	ENSP00000368965.4:n.*1142T>G
NM_152419.2:c.*1142T>G	NP_689632.2:n.*1142T>G
XM_005273409.1:c.*1142T>G	XP_005273466.1:n.*1142T>G
XM_005273410.1:c.*1142T>G	XP_005273467.1:n.*1142T>G
XM_005273411.1:c.*1142T>G	XP_005273468.1:n.*1142T>G
NM_001363227.1:c.*1142T>G	NP_001350156.1:n.*1142T>G
NM_001363228.1:c.*1142T>G	NP_001350157.1:n.*1142T>G
NM_001363229.1:c.*1142T>G	NP_001350158.1:n.*1142T>G
NM_152419.3:c.*1142T>G MANE Select	NP_689632.2:n.*1142T>G
NM_001363227.2:c.*1142T>G	NP_001350156.1:n.*1142T>G
NM_001363228.2:c.*1142T>G	NP_001350157.1:n.*1142T>G
NM_001363229.2:c.*1142T>G	NP_001350158.1:n.*1142T>G