Canonical Allele Identifier: CA176076961

Gene: HGSNAT

Linked Data

• ClinVar Variation Id: 1003782
• ClinVar RCV Id: RCV001300383 ; RCV001835433
• dbSNP Id: rs928930218
• gnomAD v2: 8-43054600-T-C
• gnomAD v4: 8-43199457-T-C
• MyVariant Identifiers: chr8:g.43054600T>C (hg19) ; chr8:g.43199457T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.43199457T>C , CM000670.2:g.43199457T>C	GRCh38
NC_000008.10:g.43054600T>C , CM000670.1:g.43054600T>C	GRCh37
NC_000008.9:g.43173757T>C	NCBI36
NG_009552.1:g.64009T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000379644.9:c.1796T>C MANE Select	ENSP00000368965.4:p.Leu599Pro
ENST00000379644.8:c.1796T>C	ENSP00000368965.4:p.Leu599Pro
ENST00000519705.1:n.1112T>C
ENST00000521576.1:c.947T>C	ENSP00000429029.1:p.Leu316Pro
NM_152419.2:c.1796T>C	NP_689632.2:p.Leu599Pro
XM_005273409.1:c.1907T>C	XP_005273466.1:p.Leu636Pro
XM_005273410.1:c.1883T>C	XP_005273467.1:p.Leu628Pro
XM_005273411.1:c.1715T>C	XP_005273468.1:p.Leu572Pro
NM_001363227.1:c.1883T>C	NP_001350156.1:p.Leu628Pro
NM_001363228.1:c.1604T>C	NP_001350157.1:p.Leu535Pro
NM_001363229.1:c.932T>C	NP_001350158.1:p.Leu311Pro
NM_152419.3:c.1796T>C MANE Select	NP_689632.2:p.Leu599Pro
NM_001363227.2:c.1883T>C	NP_001350156.1:p.Leu628Pro
NM_001363228.2:c.1604T>C	NP_001350157.1:p.Leu535Pro
NM_001363229.2:c.932T>C	NP_001350158.1:p.Leu311Pro