Canonical Allele Identifier: CA2687155778

Gene: HGSNAT

Linked Data

• ClinVar Variation Id: 2935715
• ClinVar RCV Id: RCV003793809
• gnomAD v4: 8-43199379-C-T

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.43199379C>T , CM000670.2:g.43199379C>T	GRCh38
NC_000008.10:g.43054522C>T , CM000670.1:g.43054522C>T	GRCh37
NC_000008.9:g.43173679C>T	NCBI36
NG_009552.1:g.63931C>T

Transcript Alleles

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