Canonical Allele Identifier: CA10622141
Community Standard Title: NM_000521.4(HEXB):c.1082+5G>A
Gene: HEXB HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.74715695G>A , CM000667.2:g.74715695G>A GRCh38
NC_000005.9:g.74011520G>A , CM000667.1:g.74011520G>A GRCh37
NC_000005.8:g.74047276G>A NCBI36
NG_009770.1:g.35552G>A
NG_009770.2:g.80673G>A

Transcript Alleles

HGVS Amino-acid Change
NM_000521.4:c.1082+5G>A MANE Select NP_000512.2:n.1082+5G>A
ENST00000261416.12:c.1082+5G>A MANE Select ENSP00000261416.7:n.1082+5G>A
NM_000521.3:c.1082+5G>A NP_000512.1:n.1082+5G>A
NM_001292004.1:c.407+5G>A NP_001278933.1:n.407+5G>A
NM_001292004.2:c.407+5G>A NP_001278933.1:n.407+5G>A
ENST00000261416.11:c.1082+5G>A ENSP00000261416.7:n.1082+5G>A
ENST00000504459.5:n.279+5G>A
ENST00000511181.5:c.407+5G>A ENSP00000426285.1:n.407+5G>A
ENST00000511621.1:n.45+5G>A
ENST00000513336.5:c.105+5G>A
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