Canonical Allele Identifier: CA3305781
Gene: HEXB HGNC NCBI

Linked Data

ClinVar Variation Id: 1141954
ClinVar RCV Id: RCV001479567
dbSNP Id: rs371930917
ExAC: 5:73981391 G / C
gnomAD v2: 5-73981391-G-C
gnomAD v3: 5-74685566-G-C
gnomAD v4: 5-74685566-G-C
MyVariant Identifiers: chr5:g.73981391G>C (hg19) chr5:g.74685566G>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.74685566G>C , CM000667.2:g.74685566G>C GRCh38
NC_000005.9:g.73981391G>C , CM000667.1:g.73981391G>C GRCh37
NC_000005.8:g.74017147G>C NCBI36
NG_009770.1:g.5423G>C
NG_009770.2:g.50544G>C

Transcript Alleles

HGVS Amino-acid change
ENST00000261416.12:c.299+7G>C MANE Select ENSP00000261416.7:n.299+7G>C
ENST00000261416.11:c.299+7G>C ENSP00000261416.7:n.299+7G>C
ENST00000511181.5:c.-376-3762G>C ENSP00000426285.1:n.-376-3762G>C
ENST00000513079.5:n.364+7G>C
ENST00000515528.1:n.354+7G>C
NM_000521.3:c.299+7G>C NP_000512.1:n.299+7G>C
NM_001292004.1:c.-376-3762G>C NP_001278933.1:n.-376-3762G>C
NM_000521.4:c.299+7G>C MANE Select NP_000512.2:n.299+7G>C
NM_001292004.2:c.-376-3762G>C NP_001278933.1:n.-376-3762G>C
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