Canonical Allele Identifier: CA371120514

Gene: HGSNAT

Linked Data

• MyVariant Identifiers: chr8:g.43052851A>T (hg19) ; chr8:g.43197708A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.43197708A>T , CM000670.2:g.43197708A>T	GRCh38
NC_000008.10:g.43052851A>T , CM000670.1:g.43052851A>T	GRCh37
NC_000008.9:g.43172008A>T	NCBI36
NG_009552.1:g.62260A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000379644.9:c.1579A>T MANE Select	ENSP00000368965.4:p.Asn527Tyr
ENST00000379644.8:c.1579A>T	ENSP00000368965.4:p.Asn527Tyr
ENST00000519705.1:n.895A>T
ENST00000521576.1:c.730A>T	ENSP00000429029.1:p.Asn244Tyr
ENST00000523989.1:n.1892A>T
NM_152419.2:c.1579A>T	NP_689632.2:p.Asn527Tyr
XM_005273409.1:c.1690A>T	XP_005273466.1:p.Asn564Tyr
XM_005273410.1:c.1666A>T	XP_005273467.1:p.Asn556Tyr
XM_005273411.1:c.1498A>T	XP_005273468.1:p.Asn500Tyr
NM_001363227.1:c.1666A>T	NP_001350156.1:p.Asn556Tyr
NM_001363228.1:c.1387A>T	NP_001350157.1:p.Asn463Tyr
NM_001363229.1:c.715A>T	NP_001350158.1:p.Asn239Tyr
NM_152419.3:c.1579A>T MANE Select	NP_689632.2:p.Asn527Tyr
NM_001363227.2:c.1666A>T	NP_001350156.1:p.Asn556Tyr
NM_001363228.2:c.1387A>T	NP_001350157.1:p.Asn463Tyr
NM_001363229.2:c.715A>T	NP_001350158.1:p.Asn239Tyr