Canonical Allele Identifier: CA176069334

Gene: HGSNAT

Linked Data

• dbSNP Id: rs1056359789
• gnomAD v4: 8-43182083-G-T
• MyVariant Identifiers: chr8:g.43037226G>T (hg19) ; chr8:g.43182083G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.43182083G>T , CM000670.2:g.43182083G>T	GRCh38
NC_000008.10:g.43037226G>T , CM000670.1:g.43037226G>T	GRCh37
NC_000008.9:g.43156383G>T	NCBI36
NG_009552.1:g.46635G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000379644.9:c.1013-62G>T MANE Select	ENSP00000368965.4:n.1013-62G>T
ENST00000379644.8:c.1013-62G>T	ENSP00000368965.4:n.1013-62G>T
ENST00000519000.1:n.437G>T
ENST00000521576.1:c.164-62G>T	ENSP00000429029.1:n.164-62G>T
ENST00000522082.5:c.254-62G>T	ENSP00000430151.1:n.254-62G>T
ENST00000524016.5:c.117-62G>T
NM_152419.2:c.1013-62G>T	NP_689632.2:n.1013-62G>T
XM_005273409.1:c.1013-62G>T	XP_005273466.1:n.1013-62G>T
XM_005273410.1:c.1013-62G>T	XP_005273467.1:n.1013-62G>T
XM_005273411.1:c.821-62G>T	XP_005273468.1:n.821-62G>T
XM_005273412.2:c.1013-62G>T	XP_005273469.1:n.1013-62G>T
NM_001363227.1:c.1013-62G>T	NP_001350156.1:n.1013-62G>T
NM_001363228.1:c.821-62G>T	NP_001350157.1:n.821-62G>T
NM_001363229.1:c.149-62G>T	NP_001350158.1:n.149-62G>T
XM_005273412.4:c.1013-62G>T	XP_005273469.1:n.1013-62G>T
NM_152419.3:c.1013-62G>T MANE Select	NP_689632.2:n.1013-62G>T
NM_001363227.2:c.1013-62G>T	NP_001350156.1:n.1013-62G>T
NM_001363228.2:c.821-62G>T	NP_001350157.1:n.821-62G>T
NM_001363229.2:c.149-62G>T	NP_001350158.1:n.149-62G>T