Canonical Allele Identifier: CA120900540

Gene: HEXB

Linked Data

• dbSNP Id: rs533866001
• gnomAD v2: 5-73985014-G-C
• gnomAD v3: 5-74689189-G-C
• gnomAD v4: 5-74689189-G-C
• MyVariant Identifiers: chr5:g.73985014G>C (hg19) ; chr5:g.74689189G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.74689189G>C , CM000667.2:g.74689189G>C	GRCh38
NC_000005.9:g.73985014G>C , CM000667.1:g.73985014G>C	GRCh37
NC_000005.8:g.74020770G>C	NCBI36
NG_009770.1:g.9046G>C
NG_009770.2:g.54167G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261416.12:c.300-139G>C MANE Select	ENSP00000261416.7:n.300-139G>C
ENST00000261416.11:c.300-139G>C	ENSP00000261416.7:n.300-139G>C
ENST00000511181.5:c.-376-139G>C	ENSP00000426285.1:n.-376-139G>C
ENST00000513079.5:n.365-139G>C
ENST00000515528.1:n.355-139G>C
NM_000521.3:c.300-139G>C	NP_000512.1:n.300-139G>C
NM_001292004.1:c.-376-139G>C	NP_001278933.1:n.-376-139G>C
NM_000521.4:c.300-139G>C MANE Select	NP_000512.2:n.300-139G>C
NM_001292004.2:c.-376-139G>C	NP_001278933.1:n.-376-139G>C