Canonical Allele Identifier: CA444849853
Gene: HEXB HGNC NCBI

Linked Data

gnomAD v4: 5-74685380-G-C
MyVariant Identifiers: chr5:g.73981205G>C (hg19)
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.74685380G>C , CM000667.2:g.74685380G>C GRCh38
NC_000005.9:g.73981205G>C , CM000667.1:g.73981205G>C GRCh37
NC_000005.8:g.74016961G>C NCBI36
NG_009770.1:g.5237G>C
NG_009770.2:g.50358G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000261416.12:c.120G>C MANE Select ENSP00000261416.7:p.Ala40=
ENST00000261416.11:c.120G>C ENSP00000261416.7:p.Ala40=
ENST00000511181.5:c.-376-3948G>C ENSP00000426285.1:n.-376-3948G>C
ENST00000513079.5:n.185G>C
ENST00000515528.1:n.175G>C
NM_000521.3:c.120G>C NP_000512.1:p.Ala40=
NM_001292004.1:c.-376-3948G>C NP_001278933.1:n.-376-3948G>C
NM_000521.4:c.120G>C MANE Select NP_000512.2:p.Ala40=
NM_001292004.2:c.-376-3948G>C NP_001278933.1:n.-376-3948G>C
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