Canonical Allele Identifier: CA371121648

Gene: HGSNAT

Linked Data

• MyVariant Identifiers: chr8:g.43054657T>C (hg19) ; chr8:g.43199514T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.43199514T>C , CM000670.2:g.43199514T>C	GRCh38
NC_000008.10:g.43054657T>C , CM000670.1:g.43054657T>C	GRCh37
NC_000008.9:g.43173814T>C	NCBI36
NG_009552.1:g.64066T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000379644.9:c.1853T>C MANE Select	ENSP00000368965.4:p.Leu618Pro
ENST00000379644.8:c.1853T>C	ENSP00000368965.4:p.Leu618Pro
ENST00000519705.1:n.1169T>C
ENST00000521576.1:c.1004T>C	ENSP00000429029.1:p.Leu335Pro
NM_152419.2:c.1853T>C	NP_689632.2:p.Leu618Pro
XM_005273409.1:c.1964T>C	XP_005273466.1:p.Leu655Pro
XM_005273410.1:c.1940T>C	XP_005273467.1:p.Leu647Pro
XM_005273411.1:c.1772T>C	XP_005273468.1:p.Leu591Pro
NM_001363227.1:c.1940T>C	NP_001350156.1:p.Leu647Pro
NM_001363228.1:c.1661T>C	NP_001350157.1:p.Leu554Pro
NM_001363229.1:c.989T>C	NP_001350158.1:p.Leu330Pro
NM_152419.3:c.1853T>C MANE Select	NP_689632.2:p.Leu618Pro
NM_001363227.2:c.1940T>C	NP_001350156.1:p.Leu647Pro
NM_001363228.2:c.1661T>C	NP_001350157.1:p.Leu554Pro
NM_001363229.2:c.989T>C	NP_001350158.1:p.Leu330Pro