Canonical Allele Identifier: CA371121059

Gene: HGSNAT

Linked Data

• MyVariant Identifiers: chr8:g.43054543T>A (hg19) ; chr8:g.43199400T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.43199400T>A , CM000670.2:g.43199400T>A	GRCh38
NC_000008.10:g.43054543T>A , CM000670.1:g.43054543T>A	GRCh37
NC_000008.9:g.43173700T>A	NCBI36
NG_009552.1:g.63952T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000379644.9:c.1739T>A MANE Select	ENSP00000368965.4:p.Ile580Asn
ENST00000379644.8:c.1739T>A	ENSP00000368965.4:p.Ile580Asn
ENST00000519705.1:n.1055T>A
ENST00000521576.1:c.890T>A	ENSP00000429029.1:p.Ile297Asn
NM_152419.2:c.1739T>A	NP_689632.2:p.Ile580Asn
XM_005273409.1:c.1850T>A	XP_005273466.1:p.Ile617Asn
XM_005273410.1:c.1826T>A	XP_005273467.1:p.Ile609Asn
XM_005273411.1:c.1658T>A	XP_005273468.1:p.Ile553Asn
NM_001363227.1:c.1826T>A	NP_001350156.1:p.Ile609Asn
NM_001363228.1:c.1547T>A	NP_001350157.1:p.Ile516Asn
NM_001363229.1:c.875T>A	NP_001350158.1:p.Ile292Asn
NM_152419.3:c.1739T>A MANE Select	NP_689632.2:p.Ile580Asn
NM_001363227.2:c.1826T>A	NP_001350156.1:p.Ile609Asn
NM_001363228.2:c.1547T>A	NP_001350157.1:p.Ile516Asn
NM_001363229.2:c.875T>A	NP_001350158.1:p.Ile292Asn