Canonical Allele Identifier: CA16609444
Community Standard Title: NM_000521.4(HEXB):c.299G>C (p.Arg100Pro)
Gene: HEXB HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.74685559G>C , CM000667.2:g.74685559G>C GRCh38
NC_000005.9:g.73981384G>C , CM000667.1:g.73981384G>C GRCh37
NC_000005.8:g.74017140G>C NCBI36
NG_009770.1:g.5416G>C
NG_009770.2:g.50537G>C

Transcript Alleles

HGVS Amino-acid Change
NM_000521.4:c.299G>C MANE Select NP_000512.2:p.Arg100Pro
ENST00000261416.12:c.299G>C MANE Select ENSP00000261416.7:p.Arg100Pro
NM_000521.3:c.299G>C NP_000512.1:p.Arg100Pro
NM_001292004.1:c.-376-3769G>C NP_001278933.1:n.-376-3769G>C
NM_001292004.2:c.-376-3769G>C NP_001278933.1:n.-376-3769G>C
ENST00000261416.11:c.299G>C ENSP00000261416.7:p.Arg100Pro
ENST00000511181.5:c.-376-3769G>C ENSP00000426285.1:n.-376-3769G>C
ENST00000513079.5:n.364G>C
ENST00000515528.1:n.354G>C
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