Canonical Allele Identifier: CA652296689

Gene: HGSNAT

Linked Data

• gnomAD v4: 8-43199325-A-G
• COSMIC: COSN2276522 ; COSN5681955

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.43199325A>G , CM000670.2:g.43199325A>G	GRCh38
NC_000008.10:g.43054468A>G , CM000670.1:g.43054468A>G	GRCh37
NC_000008.9:g.43173625A>G	NCBI36
NG_009552.1:g.63877A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000379644.9:c.1727-63A>G MANE Select	ENSP00000368965.4:n.1727-63A>G
ENST00000379644.8:c.1727-63A>G	ENSP00000368965.4:n.1727-63A>G
ENST00000519705.1:n.1043-63A>G
ENST00000521576.1:c.878-63A>G	ENSP00000429029.1:n.878-63A>G
NM_152419.2:c.1727-63A>G	NP_689632.2:n.1727-63A>G
XM_005273409.1:c.1838-63A>G	XP_005273466.1:n.1838-63A>G
XM_005273410.1:c.1814-63A>G	XP_005273467.1:n.1814-63A>G
XM_005273411.1:c.1646-63A>G	XP_005273468.1:n.1646-63A>G
NM_001363227.1:c.1814-63A>G	NP_001350156.1:n.1814-63A>G
NM_001363228.1:c.1535-63A>G	NP_001350157.1:n.1535-63A>G
NM_001363229.1:c.863-63A>G	NP_001350158.1:n.863-63A>G
NM_152419.3:c.1727-63A>G MANE Select	NP_689632.2:n.1727-63A>G
NM_001363227.2:c.1814-63A>G	NP_001350156.1:n.1814-63A>G
NM_001363228.2:c.1535-63A>G	NP_001350157.1:n.1535-63A>G
NM_001363229.2:c.863-63A>G	NP_001350158.1:n.863-63A>G