Canonical Allele Identifier: CA360070194

Gene: HEXB

Linked Data

• MyVariant Identifiers: chr5:g.74014641T>A (hg19) ; chr5:g.74718816T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.74718816T>A , CM000667.2:g.74718816T>A	GRCh38
NC_000005.9:g.74014641T>A , CM000667.1:g.74014641T>A	GRCh37
NC_000005.8:g.74050397T>A	NCBI36
NG_009770.1:g.38673T>A
NG_009770.2:g.83794T>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000261416.12:c.1262T>A MANE Select	ENSP00000261416.7:p.Val421Asp
ENST00000261416.11:c.1262T>A	ENSP00000261416.7:p.Val421Asp
ENST00000503312.5:c.138T>A
ENST00000504459.5:n.459T>A
ENST00000511181.5:c.587T>A	ENSP00000426285.1:p.Val196Asp
ENST00000513336.5:c.198T>A
ENST00000513539.1:n.74-93T>A
NM_000521.3:c.1262T>A	NP_000512.1:p.Val421Asp
NM_001292004.1:c.587T>A	NP_001278933.1:p.Val196Asp
NM_000521.4:c.1262T>A MANE Select	NP_000512.2:p.Val421Asp
NM_001292004.2:c.587T>A	NP_001278933.1:p.Val196Asp