Canonical Allele Identifier: CA2578348428
Gene: HEXB HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.74685563A>G , CM000667.2:g.74685563A>G GRCh38
NC_000005.9:g.73981388A>G , CM000667.1:g.73981388A>G GRCh37
NC_000005.8:g.74017144A>G NCBI36
NG_009770.1:g.5420A>G
NG_009770.2:g.50541A>G

Transcript Alleles

HGVS Amino-acid change
ENST00000261416.12:c.299+4A>G MANE Select ENSP00000261416.7:n.299+4A>G
ENST00000261416.11:c.299+4A>G ENSP00000261416.7:n.299+4A>G
ENST00000511181.5:c.-376-3765A>G ENSP00000426285.1:n.-376-3765A>G
ENST00000513079.5:n.364+4A>G
ENST00000515528.1:n.354+4A>G
NM_000521.3:c.299+4A>G NP_000512.1:n.299+4A>G
NM_001292004.1:c.-376-3765A>G NP_001278933.1:n.-376-3765A>G
NM_000521.4:c.299+4A>G MANE Select NP_000512.2:n.299+4A>G
NM_001292004.2:c.-376-3765A>G NP_001278933.1:n.-376-3765A>G
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