Canonical Allele Identifier: CA360062269

Gene: HEXB

Linked Data

• dbSNP Id: rs1268743616
• gnomAD v2: 5-73981256-G-C
• gnomAD v4: 5-74685431-G-C
• MyVariant Identifiers: chr5:g.73981256G>C (hg19) ; chr5:g.74685431G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.74685431G>C , CM000667.2:g.74685431G>C	GRCh38
NC_000005.9:g.73981256G>C , CM000667.1:g.73981256G>C	GRCh37
NC_000005.8:g.74017012G>C	NCBI36
NG_009770.1:g.5288G>C
NG_009770.2:g.50409G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261416.12:c.171G>C MANE Select	ENSP00000261416.7:p.Trp57Cys
ENST00000261416.11:c.171G>C	ENSP00000261416.7:p.Trp57Cys
ENST00000511181.5:c.-376-3897G>C	ENSP00000426285.1:n.-376-3897G>C
ENST00000513079.5:n.236G>C
ENST00000515528.1:n.226G>C
NM_000521.3:c.171G>C	NP_000512.1:p.Trp57Cys
NM_001292004.1:c.-376-3897G>C	NP_001278933.1:n.-376-3897G>C
NM_000521.4:c.171G>C MANE Select	NP_000512.2:p.Trp57Cys
NM_001292004.2:c.-376-3897G>C	NP_001278933.1:n.-376-3897G>C