Canonical Allele Identifier: CA371121423

Gene: HGSNAT

Linked Data

• gnomAD v4: 8-43199470-G-T
• MyVariant Identifiers: chr8:g.43054613G>T (hg19) ; chr8:g.43199470G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.43199470G>T , CM000670.2:g.43199470G>T	GRCh38
NC_000008.10:g.43054613G>T , CM000670.1:g.43054613G>T	GRCh37
NC_000008.9:g.43173770G>T	NCBI36
NG_009552.1:g.64022G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000379644.9:c.1809G>T MANE Select	ENSP00000368965.4:p.Gln603His
ENST00000379644.8:c.1809G>T	ENSP00000368965.4:p.Gln603His
ENST00000519705.1:n.1125G>T
ENST00000521576.1:c.960G>T	ENSP00000429029.1:p.Gln320His
NM_152419.2:c.1809G>T	NP_689632.2:p.Gln603His
XM_005273409.1:c.1920G>T	XP_005273466.1:p.Gln640His
XM_005273410.1:c.1896G>T	XP_005273467.1:p.Gln632His
XM_005273411.1:c.1728G>T	XP_005273468.1:p.Gln576His
NM_001363227.1:c.1896G>T	NP_001350156.1:p.Gln632His
NM_001363228.1:c.1617G>T	NP_001350157.1:p.Gln539His
NM_001363229.1:c.945G>T	NP_001350158.1:p.Gln315His
NM_152419.3:c.1809G>T MANE Select	NP_689632.2:p.Gln603His
NM_001363227.2:c.1896G>T	NP_001350156.1:p.Gln632His
NM_001363228.2:c.1617G>T	NP_001350157.1:p.Gln539His
NM_001363229.2:c.945G>T	NP_001350158.1:p.Gln315His