Canonical Allele Identifier: CA16043726

Gene: HGSNAT

Linked Data

• ClinVar Variation Id: 374408
• ClinVar RCV Id: RCV000415469 ; RCV002521465
• dbSNP Id: rs1057518644
• gnomAD v4: 8-43192413-C-T
• MyVariant Identifiers: chr8:g.43047556C>T (hg19) ; chr8:g.43192413C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.43192413C>T , CM000670.2:g.43192413C>T	GRCh38
NC_000008.10:g.43047556C>T , CM000670.1:g.43047556C>T	GRCh37
NC_000008.9:g.43166713C>T	NCBI36
NG_009552.1:g.56965C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000379644.9:c.1360C>T MANE Select	ENSP00000368965.4:p.Gln454Ter
ENST00000379644.8:c.1360C>T	ENSP00000368965.4:p.Gln454Ter
ENST00000520678.1:n.293C>T
ENST00000521576.1:c.511C>T	ENSP00000429029.1:p.Gln171Ter
ENST00000524016.5:c.464C>T
NM_152419.2:c.1360C>T	NP_689632.2:p.Gln454Ter
XM_005273409.1:c.1360C>T	XP_005273466.1:p.Gln454Ter
XM_005273410.1:c.1360C>T	XP_005273467.1:p.Gln454Ter
XM_005273411.1:c.1168C>T	XP_005273468.1:p.Gln390Ter
XM_005273412.2:c.1360C>T	XP_005273469.1:p.Gln454Ter
NM_001363227.1:c.1360C>T	NP_001350156.1:p.Gln454Ter
NM_001363228.1:c.1168C>T	NP_001350157.1:p.Gln390Ter
NM_001363229.1:c.496C>T	NP_001350158.1:p.Gln166Ter
XM_005273412.4:c.1360C>T	XP_005273469.1:p.Gln454Ter
NM_152419.3:c.1360C>T MANE Select	NP_689632.2:p.Gln454Ter
NM_001363227.2:c.1360C>T	NP_001350156.1:p.Gln454Ter
NM_001363228.2:c.1168C>T	NP_001350157.1:p.Gln390Ter
NM_001363229.2:c.496C>T	NP_001350158.1:p.Gln166Ter