Canonical Allele Identifier: CA560766120
Gene: HEXB HGNC NCBI

Linked Data

ClinVar Variation Id: 2902393
ClinVar RCV Id: RCV003609646
dbSNP Id: rs750545435
gnomAD v2: 5-73981402-G-T
gnomAD v3: 5-74685577-G-T
gnomAD v4: 5-74685577-G-T
MyVariant Identifiers: chr5:g.73981402G>T (hg19) chr5:g.74685577G>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.74685577G>T , CM000667.2:g.74685577G>T GRCh38
NC_000005.9:g.73981402G>T , CM000667.1:g.73981402G>T GRCh37
NC_000005.8:g.74017158G>T NCBI36
NG_009770.1:g.5434G>T
NG_009770.2:g.50555G>T

Transcript Alleles

HGVS Amino-acid change
ENST00000261416.12:c.299+18G>T MANE Select ENSP00000261416.7:n.299+18G>T
ENST00000261416.11:c.299+18G>T ENSP00000261416.7:n.299+18G>T
ENST00000511181.5:c.-376-3751G>T ENSP00000426285.1:n.-376-3751G>T
ENST00000513079.5:n.364+18G>T
ENST00000515528.1:n.354+18G>T
NM_000521.3:c.299+18G>T NP_000512.1:n.299+18G>T
NM_001292004.1:c.-376-3751G>T NP_001278933.1:n.-376-3751G>T
NM_000521.4:c.299+18G>T MANE Select NP_000512.2:n.299+18G>T
NM_001292004.2:c.-376-3751G>T NP_001278933.1:n.-376-3751G>T
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