Canonical Allele Identifier: CA371119537

Gene: HGSNAT

Linked Data

• ClinVar Variation Id: 974593
• ClinVar RCV Id: RCV001250772
• dbSNP Id: rs1447139472
• gnomAD v4: 8-43192305-G-C
• MyVariant Identifiers: chr8:g.43047448G>C (hg19) ; chr8:g.43192305G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.43192305G>C , CM000670.2:g.43192305G>C	GRCh38
NC_000008.10:g.43047448G>C , CM000670.1:g.43047448G>C	GRCh37
NC_000008.9:g.43166605G>C	NCBI36
NG_009552.1:g.56857G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000379644.9:c.1252G>C MANE Select	ENSP00000368965.4:p.Gly418Arg
ENST00000379644.8:c.1252G>C	ENSP00000368965.4:p.Gly418Arg
ENST00000520678.1:n.185G>C
ENST00000521576.1:c.403G>C	ENSP00000429029.1:p.Gly135Arg
ENST00000524016.5:c.356G>C
NM_152419.2:c.1252G>C	NP_689632.2:p.Gly418Arg
XM_005273409.1:c.1252G>C	XP_005273466.1:p.Gly418Arg
XM_005273410.1:c.1252G>C	XP_005273467.1:p.Gly418Arg
XM_005273411.1:c.1060G>C	XP_005273468.1:p.Gly354Arg
XM_005273412.2:c.1252G>C	XP_005273469.1:p.Gly418Arg
NM_001363227.1:c.1252G>C	NP_001350156.1:p.Gly418Arg
NM_001363228.1:c.1060G>C	NP_001350157.1:p.Gly354Arg
NM_001363229.1:c.388G>C	NP_001350158.1:p.Gly130Arg
XM_005273412.4:c.1252G>C	XP_005273469.1:p.Gly418Arg
NM_152419.3:c.1252G>C MANE Select	NP_689632.2:p.Gly418Arg
NM_001363227.2:c.1252G>C	NP_001350156.1:p.Gly418Arg
NM_001363228.2:c.1060G>C	NP_001350157.1:p.Gly354Arg
NM_001363229.2:c.388G>C	NP_001350158.1:p.Gly130Arg