Canonical Allele Identifier: CA4736673

Gene: HGSNAT

Linked Data

• ClinVar Variation Id: 504466
• ClinVar RCV Id: RCV000599289 ; RCV000669939 ; RCV001041537
• dbSNP Id: rs755710040
• ExAC: 8:43033215 A / C
• gnomAD v2: 8-43033215-A-C
• gnomAD v3: 8-43178072-A-C
• gnomAD v4: 8-43178072-A-C
• MyVariant Identifiers: chr8:g.43033215A>C (hg19) ; chr8:g.43178072A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.43178072A>C , CM000670.2:g.43178072A>C	GRCh38
NC_000008.10:g.43033215A>C , CM000670.1:g.43033215A>C	GRCh37
NC_000008.9:g.43152372A>C	NCBI36
NG_009552.1:g.42624A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000379644.9:c.852-2A>C MANE Select	ENSP00000368965.4:n.852-2A>C
ENST00000379644.8:c.852-2A>C	ENSP00000368965.4:n.852-2A>C
ENST00000522082.5:c.93-2A>C	ENSP00000430151.1:n.93-2A>C
NM_152419.2:c.852-2A>C	NP_689632.2:n.852-2A>C
XM_005273409.1:c.852-2A>C	XP_005273466.1:n.852-2A>C
XM_005273410.1:c.852-2A>C	XP_005273467.1:n.852-2A>C
XM_005273411.1:c.821-4073A>C	XP_005273468.1:n.821-4073A>C
XM_005273412.2:c.852-2A>C	XP_005273469.1:n.852-2A>C
NM_001363227.1:c.852-2A>C	NP_001350156.1:n.852-2A>C
NM_001363228.1:c.821-4073A>C	NP_001350157.1:n.821-4073A>C
NM_001363229.1:c.-13-2A>C	NP_001350158.1:n.-13-2A>C
XM_005273412.4:c.852-2A>C	XP_005273469.1:n.852-2A>C
NM_152419.3:c.852-2A>C MANE Select	NP_689632.2:n.852-2A>C
NM_001363227.2:c.852-2A>C	NP_001350156.1:n.852-2A>C
NM_001363228.2:c.821-4073A>C	NP_001350157.1:n.821-4073A>C
NM_001363229.2:c.-13-2A>C	NP_001350158.1:n.-13-2A>C