Canonical Allele Identifier: CA371120617

Gene: HGSNAT

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.43197847T>A , CM000670.2:g.43197847T>A	GRCh38
NC_000008.10:g.43052990T>A , CM000670.1:g.43052990T>A	GRCh37
NC_000008.9:g.43172147T>A	NCBI36
NG_009552.1:g.62399T>A

Transcript Alleles

HGVS	Amino-acid Change
NM_152419.3:c.1621T>A MANE Select	NP_689632.2:p.Ser541Thr
ENST00000379644.9:c.1621T>A MANE Select	ENSP00000368965.4:p.Ser541Thr
NM_001363227.1:c.1708T>A	NP_001350156.1:p.Ser570Thr
NM_001363227.2:c.1708T>A	NP_001350156.1:p.Ser570Thr
NM_001363228.1:c.1429T>A	NP_001350157.1:p.Ser477Thr
NM_001363228.2:c.1429T>A	NP_001350157.1:p.Ser477Thr
NM_001363229.1:c.757T>A	NP_001350158.1:p.Ser253Thr
NM_001363229.2:c.757T>A	NP_001350158.1:p.Ser253Thr
NM_152419.2:c.1621T>A	NP_689632.2:p.Ser541Thr
ENST00000379644.8:c.1621T>A	ENSP00000368965.4:p.Ser541Thr
ENST00000519705.1:n.937T>A
ENST00000521576.1:c.772T>A	ENSP00000429029.1:p.Ser258Thr
ENST00000523989.1:n.1934T>A
XM_005273409.1:c.1732T>A	XP_005273466.1:p.Ser578Thr
XM_005273410.1:c.1708T>A	XP_005273467.1:p.Ser570Thr
XM_005273411.1:c.1540T>A	XP_005273468.1:p.Ser514Thr