Canonical Allele Identifier: CA4736872

Gene: HGSNAT

Linked Data

• ClinVar Variation Id: 265483
• ClinVar RCV Id: RCV000255417 ; RCV000587936 ; RCV000665568 ; RCV000763185
• dbSNP Id: rs753355844
• ExAC: 8:43048933 G / A
• gnomAD v2: 8-43048933-G-A
• gnomAD v4: 8-43193790-G-A
• MyVariant Identifiers: chr8:g.43048933G>A (hg19) ; chr8:g.43193790G>A (hg38)
• PubMed: PMID:17033958 ; PMID:18024218 ; PMID:19479962 ; PMID:19823584 ; PMID:20583299

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.43193790G>A , CM000670.2:g.43193790G>A	GRCh38
NC_000008.10:g.43048933G>A , CM000670.1:g.43048933G>A	GRCh37
NC_000008.9:g.43168090G>A	NCBI36
NG_009552.1:g.58342G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000379644.9:c.1411G>A MANE Select	ENSP00000368965.4:p.Glu471Lys
ENST00000379644.8:c.1411G>A	ENSP00000368965.4:p.Glu471Lys
ENST00000520678.1:n.344G>A
ENST00000521576.1:c.562G>A	ENSP00000429029.1:p.Glu188Lys
ENST00000524016.5:c.515G>A
NM_152419.2:c.1411G>A	NP_689632.2:p.Glu471Lys
XM_005273409.1:c.1411G>A	XP_005273466.1:p.Glu471Lys
XM_005273410.1:c.1411G>A	XP_005273467.1:p.Glu471Lys
XM_005273411.1:c.1219G>A	XP_005273468.1:p.Glu407Lys
XM_005273412.2:c.1411G>A	XP_005273469.1:p.Glu471Lys
NM_001363227.1:c.1411G>A	NP_001350156.1:p.Glu471Lys
NM_001363228.1:c.1219G>A	NP_001350157.1:p.Glu407Lys
NM_001363229.1:c.547G>A	NP_001350158.1:p.Glu183Lys
XM_005273412.4:c.1411G>A	XP_005273469.1:p.Glu471Lys
NM_152419.3:c.1411G>A MANE Select	NP_689632.2:p.Glu471Lys
NM_001363227.2:c.1411G>A	NP_001350156.1:p.Glu471Lys
NM_001363228.2:c.1219G>A	NP_001350157.1:p.Glu407Lys
NM_001363229.2:c.547G>A	NP_001350158.1:p.Glu183Lys