Canonical Allele Identifier: CA371120533

Gene: HGSNAT

Linked Data

• MyVariant Identifiers: chr8:g.43052860T>C (hg19) ; chr8:g.43197717T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.43197717T>C , CM000670.2:g.43197717T>C	GRCh38
NC_000008.10:g.43052860T>C , CM000670.1:g.43052860T>C	GRCh37
NC_000008.9:g.43172017T>C	NCBI36
NG_009552.1:g.62269T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000379644.9:c.1588T>C MANE Select	ENSP00000368965.4:p.Phe530Leu
ENST00000379644.8:c.1588T>C	ENSP00000368965.4:p.Phe530Leu
ENST00000519705.1:n.904T>C
ENST00000521576.1:c.739T>C	ENSP00000429029.1:p.Phe247Leu
ENST00000523989.1:n.1901T>C
NM_152419.2:c.1588T>C	NP_689632.2:p.Phe530Leu
XM_005273409.1:c.1699T>C	XP_005273466.1:p.Phe567Leu
XM_005273410.1:c.1675T>C	XP_005273467.1:p.Phe559Leu
XM_005273411.1:c.1507T>C	XP_005273468.1:p.Phe503Leu
NM_001363227.1:c.1675T>C	NP_001350156.1:p.Phe559Leu
NM_001363228.1:c.1396T>C	NP_001350157.1:p.Phe466Leu
NM_001363229.1:c.724T>C	NP_001350158.1:p.Phe242Leu
NM_152419.3:c.1588T>C MANE Select	NP_689632.2:p.Phe530Leu
NM_001363227.2:c.1675T>C	NP_001350156.1:p.Phe559Leu
NM_001363228.2:c.1396T>C	NP_001350157.1:p.Phe466Leu
NM_001363229.2:c.724T>C	NP_001350158.1:p.Phe242Leu