Canonical Allele Identifier: CA120898789
Gene: HEXB HGNC NCBI

Linked Data

dbSNP Id: rs923752671
gnomAD v2: 5-73981198-A-T
gnomAD v3: 5-74685373-A-T
gnomAD v4: 5-74685373-A-T
MyVariant Identifiers: chr5:g.73981198A>T (hg19) chr5:g.73981198_73981199delinsTG (hg19) chr5:g.74685373A>T (hg38) chr5:g.74685373_74685374delinsTG (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.74685373A>T , CM000667.2:g.74685373A>T GRCh38
NC_000005.9:g.73981198A>T , CM000667.1:g.73981198A>T GRCh37
NC_000005.8:g.74016954A>T NCBI36
NG_009770.1:g.5230A>T
NG_009770.2:g.50351A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000261416.12:c.113A>T MANE Select ENSP00000261416.7:p.Gln38Leu
ENST00000261416.11:c.113A>T ENSP00000261416.7:p.Gln38Leu
ENST00000511181.5:c.-376-3955A>T ENSP00000426285.1:n.-376-3955A>T
ENST00000513079.5:n.178A>T
ENST00000515528.1:n.168A>T
NM_000521.3:c.113A>T NP_000512.1:p.Gln38Leu
NM_001292004.1:c.-376-3955A>T NP_001278933.1:n.-376-3955A>T
NM_000521.4:c.113A>T MANE Select NP_000512.2:p.Gln38Leu
NM_001292004.2:c.-376-3955A>T NP_001278933.1:n.-376-3955A>T
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