Canonical Allele Identifier: CA371120544

Gene: HGSNAT

Linked Data

• MyVariant Identifiers: chr8:g.43052864T>C (hg19) ; chr8:g.43197721T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.43197721T>C , CM000670.2:g.43197721T>C	GRCh38
NC_000008.10:g.43052864T>C , CM000670.1:g.43052864T>C	GRCh37
NC_000008.9:g.43172021T>C	NCBI36
NG_009552.1:g.62273T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000379644.9:c.1592T>C MANE Select	ENSP00000368965.4:p.Ile531Thr
ENST00000379644.8:c.1592T>C	ENSP00000368965.4:p.Ile531Thr
ENST00000519705.1:n.908T>C
ENST00000521576.1:c.743T>C	ENSP00000429029.1:p.Ile248Thr
ENST00000523989.1:n.1905T>C
NM_152419.2:c.1592T>C	NP_689632.2:p.Ile531Thr
XM_005273409.1:c.1703T>C	XP_005273466.1:p.Ile568Thr
XM_005273410.1:c.1679T>C	XP_005273467.1:p.Ile560Thr
XM_005273411.1:c.1511T>C	XP_005273468.1:p.Ile504Thr
NM_001363227.1:c.1679T>C	NP_001350156.1:p.Ile560Thr
NM_001363228.1:c.1400T>C	NP_001350157.1:p.Ile467Thr
NM_001363229.1:c.728T>C	NP_001350158.1:p.Ile243Thr
NM_152419.3:c.1592T>C MANE Select	NP_689632.2:p.Ile531Thr
NM_001363227.2:c.1679T>C	NP_001350156.1:p.Ile560Thr
NM_001363228.2:c.1400T>C	NP_001350157.1:p.Ile467Thr
NM_001363229.2:c.728T>C	NP_001350158.1:p.Ile243Thr