Canonical Allele Identifier: CA371124720

Gene: HGSNAT

Linked Data

• ClinVar Variation Id: 1485684
• ClinVar RCV Id: RCV002000919
• dbSNP Id: rs2130648749
• gnomAD v4: 8-43140616-T-C
• MyVariant Identifiers: chr8:g.42995759T>C (hg19) ; chr8:g.43140616T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.43140616T>C , CM000670.2:g.43140616T>C	GRCh38
NC_000008.10:g.42995759T>C , CM000670.1:g.42995759T>C	GRCh37
NC_000008.9:g.43114916T>C	NCBI36
NG_009552.1:g.5168T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000379644.9:c.118+2T>C MANE Select	ENSP00000368965.4:n.118+2T>C
ENST00000379644.8:c.118+2T>C	ENSP00000368965.4:n.118+2T>C
ENST00000517319.1:c.118+2T>C	ENSP00000430032.1:n.118+2T>C
ENST00000520704.1:c.-33+2T>C	ENSP00000429109.1:n.-33+2T>C
NM_152419.2:c.118+2T>C	NP_689632.2:n.118+2T>C
XM_005273409.1:c.118+2T>C	XP_005273466.1:n.118+2T>C
XM_005273410.1:c.118+2T>C	XP_005273467.1:n.118+2T>C
XM_005273411.1:c.118+2T>C	XP_005273468.1:n.118+2T>C
XM_005273412.2:c.118+2T>C	XP_005273469.1:n.118+2T>C
NM_001363227.1:c.118+2T>C	NP_001350156.1:n.118+2T>C
NM_001363228.1:c.118+2T>C	NP_001350157.1:n.118+2T>C
NM_001363229.1:c.-716+2T>C	NP_001350158.1:n.-716+2T>C
XM_005273412.4:c.118+2T>C	XP_005273469.1:n.118+2T>C
NM_152419.3:c.118+2T>C MANE Select	NP_689632.2:n.118+2T>C
NM_001363227.2:c.118+2T>C	NP_001350156.1:n.118+2T>C
NM_001363228.2:c.118+2T>C	NP_001350157.1:n.118+2T>C
NM_001363229.2:c.-716+2T>C	NP_001350158.1:n.-716+2T>C