Canonical Allele Identifier: CA360062072
Gene: HEXB HGNC NCBI

Linked Data

gnomAD v4: 5-74685327-C-A

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.74685327C>A , CM000667.2:g.74685327C>A GRCh38
NC_000005.9:g.73981152C>A , CM000667.1:g.73981152C>A GRCh37
NC_000005.8:g.74016908C>A NCBI36
NG_009770.1:g.5184C>A
NG_009770.2:g.50305C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000261416.12:c.67C>A MANE Select ENSP00000261416.7:p.Leu23Met
ENST00000261416.11:c.67C>A ENSP00000261416.7:p.Leu23Met
ENST00000511181.5:c.-376-4001C>A ENSP00000426285.1:n.-376-4001C>A
ENST00000513079.5:n.132C>A
ENST00000515528.1:n.122C>A
NM_000521.3:c.67C>A NP_000512.1:p.Leu23Met
NM_001292004.1:c.-376-4001C>A NP_001278933.1:n.-376-4001C>A
NM_000521.4:c.67C>A MANE Select NP_000512.2:p.Leu23Met
NM_001292004.2:c.-376-4001C>A NP_001278933.1:n.-376-4001C>A