Canonical Allele Identifier: CA360062208
Gene: HEXB HGNC NCBI

Linked Data

dbSNP Id: rs766127309
MyVariant Identifiers: chr5:g.73981222C>G (hg19) chr5:g.74685397C>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.74685397C>G , CM000667.2:g.74685397C>G GRCh38
NC_000005.9:g.73981222C>G , CM000667.1:g.73981222C>G GRCh37
NC_000005.8:g.74016978C>G NCBI36
NG_009770.1:g.5254C>G
NG_009770.2:g.50375C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000261416.12:c.137C>G MANE Select ENSP00000261416.7:p.Pro46Arg
ENST00000261416.11:c.137C>G ENSP00000261416.7:p.Pro46Arg
ENST00000511181.5:c.-376-3931C>G ENSP00000426285.1:n.-376-3931C>G
ENST00000513079.5:n.202C>G
ENST00000515528.1:n.192C>G
NM_000521.3:c.137C>G NP_000512.1:p.Pro46Arg
NM_001292004.1:c.-376-3931C>G NP_001278933.1:n.-376-3931C>G
NM_000521.4:c.137C>G MANE Select NP_000512.2:p.Pro46Arg
NM_001292004.2:c.-376-3931C>G NP_001278933.1:n.-376-3931C>G
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