Canonical Allele Identifier: CA371120778

Gene: HGSNAT

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.43197926G>A , CM000670.2:g.43197926G>A	GRCh38
NC_000008.10:g.43053069G>A , CM000670.1:g.43053069G>A	GRCh37
NC_000008.9:g.43172226G>A	NCBI36
NG_009552.1:g.62478G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_152419.3:c.1700G>A MANE Select	NP_689632.2:p.Trp567Ter
ENST00000379644.9:c.1700G>A MANE Select	ENSP00000368965.4:p.Trp567Ter
NM_001363227.1:c.1787G>A	NP_001350156.1:p.Trp596Ter
NM_001363227.2:c.1787G>A	NP_001350156.1:p.Trp596Ter
NM_001363228.1:c.1508G>A	NP_001350157.1:p.Trp503Ter
NM_001363228.2:c.1508G>A	NP_001350157.1:p.Trp503Ter
NM_001363229.1:c.836G>A	NP_001350158.1:p.Trp279Ter
NM_001363229.2:c.836G>A	NP_001350158.1:p.Trp279Ter
NM_152419.2:c.1700G>A	NP_689632.2:p.Trp567Ter
ENST00000379644.8:c.1700G>A	ENSP00000368965.4:p.Trp567Ter
ENST00000519705.1:n.1016G>A
ENST00000521576.1:c.851G>A	ENSP00000429029.1:p.Trp284Ter
XM_005273409.1:c.1811G>A	XP_005273466.1:p.Trp604Ter
XM_005273410.1:c.1787G>A	XP_005273467.1:p.Trp596Ter
XM_005273411.1:c.1619G>A	XP_005273468.1:p.Trp540Ter