Canonical Allele Identifier: CA371120726

Gene: HGSNAT

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.43197900C>G , CM000670.2:g.43197900C>G	GRCh38
NC_000008.10:g.43053043C>G , CM000670.1:g.43053043C>G	GRCh37
NC_000008.9:g.43172200C>G	NCBI36
NG_009552.1:g.62452C>G

Transcript Alleles

HGVS	Amino-acid Change
NM_152419.3:c.1674C>G MANE Select	NP_689632.2:p.Tyr558Ter
ENST00000379644.9:c.1674C>G MANE Select	ENSP00000368965.4:p.Tyr558Ter
NM_001363227.1:c.1761C>G	NP_001350156.1:p.Tyr587Ter
NM_001363227.2:c.1761C>G	NP_001350156.1:p.Tyr587Ter
NM_001363228.1:c.1482C>G	NP_001350157.1:p.Tyr494Ter
NM_001363228.2:c.1482C>G	NP_001350157.1:p.Tyr494Ter
NM_001363229.1:c.810C>G	NP_001350158.1:p.Tyr270Ter
NM_001363229.2:c.810C>G	NP_001350158.1:p.Tyr270Ter
NM_152419.2:c.1674C>G	NP_689632.2:p.Tyr558Ter
ENST00000379644.8:c.1674C>G	ENSP00000368965.4:p.Tyr558Ter
ENST00000519705.1:n.990C>G
ENST00000521576.1:c.825C>G	ENSP00000429029.1:p.Tyr275Ter
ENST00000523989.1:n.1987C>G
XM_005273409.1:c.1785C>G	XP_005273466.1:p.Tyr595Ter
XM_005273410.1:c.1761C>G	XP_005273467.1:p.Tyr587Ter
XM_005273411.1:c.1593C>G	XP_005273468.1:p.Tyr531Ter