Canonical Allele Identifier: CA360070195

Gene: HEXB

Linked Data

• dbSNP Id: rs1406648280
• gnomAD v2: 5-74014641-T-C
• gnomAD v3: 5-74718816-T-C
• gnomAD v4: 5-74718816-T-C
• MyVariant Identifiers: chr5:g.74014641T>C (hg19) ; chr5:g.74718816T>C (hg38)

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid change
ENST00000261416.12:c.1262T>C MANE Select	ENSP00000261416.7:p.Val421Ala
ENST00000261416.11:c.1262T>C	ENSP00000261416.7:p.Val421Ala
ENST00000503312.5:c.138T>C
ENST00000504459.5:n.459T>C
ENST00000511181.5:c.587T>C	ENSP00000426285.1:p.Val196Ala
ENST00000513336.5:c.198T>C
ENST00000513539.1:n.74-93T>C
NM_000521.3:c.1262T>C	NP_000512.1:p.Val421Ala
NM_001292004.1:c.587T>C	NP_001278933.1:p.Val196Ala
NM_000521.4:c.1262T>C MANE Select	NP_000512.2:p.Val421Ala
NM_001292004.2:c.587T>C	NP_001278933.1:p.Val196Ala