Canonical Allele Identifier: CA371116890

Gene: HGSNAT

Linked Data

• gnomAD v4: 8-43178088-T-C
• MyVariant Identifiers: chr8:g.43033231T>C (hg19) ; chr8:g.43178088T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.43178088T>C , CM000670.2:g.43178088T>C	GRCh38
NC_000008.10:g.43033231T>C , CM000670.1:g.43033231T>C	GRCh37
NC_000008.9:g.43152388T>C	NCBI36
NG_009552.1:g.42640T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000379644.9:c.866T>C MANE Select	ENSP00000368965.4:p.Met289Thr
ENST00000379644.8:c.866T>C	ENSP00000368965.4:p.Met289Thr
ENST00000522082.5:c.107T>C	ENSP00000430151.1:p.Met36Thr
NM_152419.2:c.866T>C	NP_689632.2:p.Met289Thr
XM_005273409.1:c.866T>C	XP_005273466.1:p.Met289Thr
XM_005273410.1:c.866T>C	XP_005273467.1:p.Met289Thr
XM_005273411.1:c.821-4057T>C	XP_005273468.1:n.821-4057T>C
XM_005273412.2:c.866T>C	XP_005273469.1:p.Met289Thr
NM_001363227.1:c.866T>C	NP_001350156.1:p.Met289Thr
NM_001363228.1:c.821-4057T>C	NP_001350157.1:n.821-4057T>C
NM_001363229.1:c.2T>C	NP_001350158.1:p.Met1Thr
XM_005273412.4:c.866T>C	XP_005273469.1:p.Met289Thr
NM_152419.3:c.866T>C MANE Select	NP_689632.2:p.Met289Thr
NM_001363227.2:c.866T>C	NP_001350156.1:p.Met289Thr
NM_001363228.2:c.821-4057T>C	NP_001350157.1:n.821-4057T>C
NM_001363229.2:c.2T>C	NP_001350158.1:p.Met1Thr