Canonical Allele Identifier: CA371121041

Gene: HGSNAT

Linked Data

• MyVariant Identifiers: chr8:g.43054539T>G (hg19) ; chr8:g.43199396T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.43199396T>G , CM000670.2:g.43199396T>G	GRCh38
NC_000008.10:g.43054539T>G , CM000670.1:g.43054539T>G	GRCh37
NC_000008.9:g.43173696T>G	NCBI36
NG_009552.1:g.63948T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000379644.9:c.1735T>G MANE Select	ENSP00000368965.4:p.Ser579Ala
ENST00000379644.8:c.1735T>G	ENSP00000368965.4:p.Ser579Ala
ENST00000519705.1:n.1051T>G
ENST00000521576.1:c.886T>G	ENSP00000429029.1:p.Ser296Ala
NM_152419.2:c.1735T>G	NP_689632.2:p.Ser579Ala
XM_005273409.1:c.1846T>G	XP_005273466.1:p.Ser616Ala
XM_005273410.1:c.1822T>G	XP_005273467.1:p.Ser608Ala
XM_005273411.1:c.1654T>G	XP_005273468.1:p.Ser552Ala
NM_001363227.1:c.1822T>G	NP_001350156.1:p.Ser608Ala
NM_001363228.1:c.1543T>G	NP_001350157.1:p.Ser515Ala
NM_001363229.1:c.871T>G	NP_001350158.1:p.Ser291Ala
NM_152419.3:c.1735T>G MANE Select	NP_689632.2:p.Ser579Ala
NM_001363227.2:c.1822T>G	NP_001350156.1:p.Ser608Ala
NM_001363228.2:c.1543T>G	NP_001350157.1:p.Ser515Ala
NM_001363229.2:c.871T>G	NP_001350158.1:p.Ser291Ala