Canonical Allele Identifier: CA371115856

Gene: HGSNAT

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.43161501T>A , CM000670.2:g.43161501T>A	GRCh38
NC_000008.10:g.43016644T>A , CM000670.1:g.43016644T>A	GRCh37
NC_000008.9:g.43135801T>A	NCBI36
NG_009552.1:g.26053T>A

Transcript Alleles

HGVS	Amino-acid Change
NM_152419.3:c.557T>A MANE Select	NP_689632.2:p.Leu186Ter
ENST00000379644.9:c.557T>A MANE Select	ENSP00000368965.4:p.Leu186Ter
NM_001363227.1:c.557T>A	NP_001350156.1:p.Leu186Ter
NM_001363227.2:c.557T>A	NP_001350156.1:p.Leu186Ter
NM_001363228.1:c.557T>A	NP_001350157.1:p.Leu186Ter
NM_001363228.2:c.557T>A	NP_001350157.1:p.Leu186Ter
NM_001363229.1:c.-277T>A	NP_001350158.1:n.-277T>A
NM_001363229.2:c.-277T>A	NP_001350158.1:n.-277T>A
NM_152419.2:c.557T>A	NP_689632.2:p.Leu186Ter
ENST00000379644.8:c.557T>A	ENSP00000368965.4:p.Leu186Ter
ENST00000517319.1:c.420T>A	ENSP00000430032.1:n.420T>A
ENST00000520704.1:c.407T>A	ENSP00000429109.1:p.Leu136Ter
XM_005273409.1:c.557T>A	XP_005273466.1:p.Leu186Ter
XM_005273410.1:c.557T>A	XP_005273467.1:p.Leu186Ter
XM_005273411.1:c.557T>A	XP_005273468.1:p.Leu186Ter
XM_005273412.2:c.557T>A	XP_005273469.1:p.Leu186Ter
XM_005273412.4:c.557T>A	XP_005273469.1:p.Leu186Ter