Canonical Allele Identifier: CA371121278

Gene: HGSNAT

Linked Data

• MyVariant Identifiers: chr8:g.43054584C>T (hg19) ; chr8:g.43199441C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.43199441C>T , CM000670.2:g.43199441C>T	GRCh38
NC_000008.10:g.43054584C>T , CM000670.1:g.43054584C>T	GRCh37
NC_000008.9:g.43173741C>T	NCBI36
NG_009552.1:g.63993C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000379644.9:c.1780C>T MANE Select	ENSP00000368965.4:p.Pro594Ser
ENST00000379644.8:c.1780C>T	ENSP00000368965.4:p.Pro594Ser
ENST00000519705.1:n.1096C>T
ENST00000521576.1:c.931C>T	ENSP00000429029.1:p.Pro311Ser
NM_152419.2:c.1780C>T	NP_689632.2:p.Pro594Ser
XM_005273409.1:c.1891C>T	XP_005273466.1:p.Pro631Ser
XM_005273410.1:c.1867C>T	XP_005273467.1:p.Pro623Ser
XM_005273411.1:c.1699C>T	XP_005273468.1:p.Pro567Ser
NM_001363227.1:c.1867C>T	NP_001350156.1:p.Pro623Ser
NM_001363228.1:c.1588C>T	NP_001350157.1:p.Pro530Ser
NM_001363229.1:c.916C>T	NP_001350158.1:p.Pro306Ser
NM_152419.3:c.1780C>T MANE Select	NP_689632.2:p.Pro594Ser
NM_001363227.2:c.1867C>T	NP_001350156.1:p.Pro623Ser
NM_001363228.2:c.1588C>T	NP_001350157.1:p.Pro530Ser
NM_001363229.2:c.916C>T	NP_001350158.1:p.Pro306Ser