Canonical Allele Identifier: CA371119862

Gene: HGSNAT

Linked Data

• MyVariant Identifiers: chr8:g.43048924T>C (hg19) ; chr8:g.43193781T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.43193781T>C , CM000670.2:g.43193781T>C	GRCh38
NC_000008.10:g.43048924T>C , CM000670.1:g.43048924T>C	GRCh37
NC_000008.9:g.43168081T>C	NCBI36
NG_009552.1:g.58333T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000379644.9:c.1402T>C MANE Select	ENSP00000368965.4:p.Tyr468His
ENST00000379644.8:c.1402T>C	ENSP00000368965.4:p.Tyr468His
ENST00000520678.1:n.335T>C
ENST00000521576.1:c.553T>C	ENSP00000429029.1:p.Tyr185His
ENST00000524016.5:c.506T>C
NM_152419.2:c.1402T>C	NP_689632.2:p.Tyr468His
XM_005273409.1:c.1402T>C	XP_005273466.1:p.Tyr468His
XM_005273410.1:c.1402T>C	XP_005273467.1:p.Tyr468His
XM_005273411.1:c.1210T>C	XP_005273468.1:p.Tyr404His
XM_005273412.2:c.1402T>C	XP_005273469.1:p.Tyr468His
NM_001363227.1:c.1402T>C	NP_001350156.1:p.Tyr468His
NM_001363228.1:c.1210T>C	NP_001350157.1:p.Tyr404His
NM_001363229.1:c.538T>C	NP_001350158.1:p.Tyr180His
XM_005273412.4:c.1402T>C	XP_005273469.1:p.Tyr468His
NM_152419.3:c.1402T>C MANE Select	NP_689632.2:p.Tyr468His
NM_001363227.2:c.1402T>C	NP_001350156.1:p.Tyr468His
NM_001363228.2:c.1210T>C	NP_001350157.1:p.Tyr404His
NM_001363229.2:c.538T>C	NP_001350158.1:p.Tyr180His