Canonical Allele Identifier: CA2578348430
Gene: HEXB HGNC NCBI

Linked Data

gnomAD v4: 5-74685566-G-T
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Genomic Alleles

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

Transcript Alleles

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