Canonical Allele Identifier: CA2687151985

Gene: HGSNAT

Linked Data

• gnomAD v4: 8-43193739-C-A

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.43193739C>A , CM000670.2:g.43193739C>A	GRCh38
NC_000008.10:g.43048882C>A , CM000670.1:g.43048882C>A	GRCh37
NC_000008.9:g.43168039C>A	NCBI36
NG_009552.1:g.58291C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000379644.9:c.1378-18C>A MANE Select	ENSP00000368965.4:n.1378-18C>A
ENST00000379644.8:c.1378-18C>A	ENSP00000368965.4:n.1378-18C>A
ENST00000520678.1:n.311-18C>A
ENST00000521576.1:c.529-18C>A	ENSP00000429029.1:n.529-18C>A
ENST00000524016.5:c.482-18C>A
NM_152419.2:c.1378-18C>A	NP_689632.2:n.1378-18C>A
XM_005273409.1:c.1378-18C>A	XP_005273466.1:n.1378-18C>A
XM_005273410.1:c.1378-18C>A	XP_005273467.1:n.1378-18C>A
XM_005273411.1:c.1186-18C>A	XP_005273468.1:n.1186-18C>A
XM_005273412.2:c.1378-18C>A	XP_005273469.1:n.1378-18C>A
NM_001363227.1:c.1378-18C>A	NP_001350156.1:n.1378-18C>A
NM_001363228.1:c.1186-18C>A	NP_001350157.1:n.1186-18C>A
NM_001363229.1:c.514-18C>A	NP_001350158.1:n.514-18C>A
XM_005273412.4:c.1378-18C>A	XP_005273469.1:n.1378-18C>A
NM_152419.3:c.1378-18C>A MANE Select	NP_689632.2:n.1378-18C>A
NM_001363227.2:c.1378-18C>A	NP_001350156.1:n.1378-18C>A
NM_001363228.2:c.1186-18C>A	NP_001350157.1:n.1186-18C>A
NM_001363229.2:c.514-18C>A	NP_001350158.1:n.514-18C>A