Canonical Allele Identifier: CA4736988

Gene: HGSNAT

Linked Data - Variant Effect Evidence

Linked Data - Sequence & Population

Linked Data - NCBI & NCI

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.43197860C>A , CM000670.2:g.43197860C>A	GRCh38
NC_000008.10:g.43053003C>A , CM000670.1:g.43053003C>A	GRCh37
NC_000008.9:g.43172160C>A	NCBI36
NG_009552.1:g.62412C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000379644.9:c.1634C>A MANE Select	ENSP00000368965.4:p.Thr545Lys
ENST00000379644.8:c.1634C>A	ENSP00000368965.4:p.Thr545Lys
ENST00000519705.1:n.950C>A
ENST00000521576.1:c.785C>A	ENSP00000429029.1:p.Thr262Lys
ENST00000523989.1:n.1947C>A
NM_152419.2:c.1634C>A	NP_689632.2:p.Thr545Lys
XM_005273409.1:c.1745C>A	XP_005273466.1:p.Thr582Lys
XM_005273410.1:c.1721C>A	XP_005273467.1:p.Thr574Lys
XM_005273411.1:c.1553C>A	XP_005273468.1:p.Thr518Lys
NM_001363227.1:c.1721C>A	NP_001350156.1:p.Thr574Lys
NM_001363228.1:c.1442C>A	NP_001350157.1:p.Thr481Lys
NM_001363229.1:c.770C>A	NP_001350158.1:p.Thr257Lys
NM_152419.3:c.1634C>A MANE Select	NP_689632.2:p.Thr545Lys
NM_001363227.2:c.1721C>A	NP_001350156.1:p.Thr574Lys
NM_001363228.2:c.1442C>A	NP_001350157.1:p.Thr481Lys
NM_001363229.2:c.770C>A	NP_001350158.1:p.Thr257Lys