Canonical Allele Identifier: CA560766170

Gene: HEXB

Linked Data

• dbSNP Id: rs1190565905
• gnomAD v2: 5-74014494-A-C
• gnomAD v3: 5-74718669-A-C
• gnomAD v4: 5-74718669-A-C
• MyVariant Identifiers: chr5:g.74014494A>C (hg19) ; chr5:g.74718669A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.74718669A>C , CM000667.2:g.74718669A>C	GRCh38
NC_000005.9:g.74014494A>C , CM000667.1:g.74014494A>C	GRCh37
NC_000005.8:g.74050250A>C	NCBI36
NG_009770.1:g.38526A>C
NG_009770.2:g.83647A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000261416.12:c.1243-128A>C MANE Select	ENSP00000261416.7:n.1243-128A>C
ENST00000261416.11:c.1243-128A>C	ENSP00000261416.7:n.1243-128A>C
ENST00000503312.5:c.119-128A>C
ENST00000504459.5:n.440-128A>C
ENST00000511181.5:c.568-128A>C	ENSP00000426285.1:n.568-128A>C
ENST00000513336.5:c.179-128A>C
ENST00000513539.1:n.74-240A>C
NM_000521.3:c.1243-128A>C	NP_000512.1:n.1243-128A>C
NM_001292004.1:c.568-128A>C	NP_001278933.1:n.568-128A>C
NM_000521.4:c.1243-128A>C MANE Select	NP_000512.2:n.1243-128A>C
NM_001292004.2:c.568-128A>C	NP_001278933.1:n.568-128A>C