Canonical Allele Identifier: CA371121089

Gene: HGSNAT

Linked Data

• gnomAD v4: 8-43199406-T-C
• MyVariant Identifiers: chr8:g.43054549T>C (hg19) ; chr8:g.43199406T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.43199406T>C , CM000670.2:g.43199406T>C	GRCh38
NC_000008.10:g.43054549T>C , CM000670.1:g.43054549T>C	GRCh37
NC_000008.9:g.43173706T>C	NCBI36
NG_009552.1:g.63958T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000379644.9:c.1745T>C MANE Select	ENSP00000368965.4:p.Val582Ala
ENST00000379644.8:c.1745T>C	ENSP00000368965.4:p.Val582Ala
ENST00000519705.1:n.1061T>C
ENST00000521576.1:c.896T>C	ENSP00000429029.1:p.Val299Ala
NM_152419.2:c.1745T>C	NP_689632.2:p.Val582Ala
XM_005273409.1:c.1856T>C	XP_005273466.1:p.Val619Ala
XM_005273410.1:c.1832T>C	XP_005273467.1:p.Val611Ala
XM_005273411.1:c.1664T>C	XP_005273468.1:p.Val555Ala
NM_001363227.1:c.1832T>C	NP_001350156.1:p.Val611Ala
NM_001363228.1:c.1553T>C	NP_001350157.1:p.Val518Ala
NM_001363229.1:c.881T>C	NP_001350158.1:p.Val294Ala
NM_152419.3:c.1745T>C MANE Select	NP_689632.2:p.Val582Ala
NM_001363227.2:c.1832T>C	NP_001350156.1:p.Val611Ala
NM_001363228.2:c.1553T>C	NP_001350157.1:p.Val518Ala
NM_001363229.2:c.881T>C	NP_001350158.1:p.Val294Ala