Canonical Allele Identifier: CA10646815
Community Standard Title: NC_000017.11:g.75844597G>A
Gene: UNC13D HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.75844597G>A , CM000679.2:g.75844597G>A GRCh38
NC_000017.10:g.73840678G>A , CM000679.1:g.73840678G>A GRCh37
NC_000017.9:g.71352273G>A NCBI36
NG_007266.1:g.5121C>T , LRG_122:g.5121C>T

Transcript Alleles

HGVS Amino-acid Change
NM_199242.2:c.-260C>T , LRG_122t1:c.-260C>T NP_954712.1:n.-260C>T
ENST00000207549.8:c.-260C>T ENSP00000207549.3:n.-260C>T
ENST00000588774.2:n.52+137C>T
ENST00000699512.1:c.-76+137C>T ENSP00000514407.1:n.-76+137C>T
ENST00000699513.1:c.-260C>T ENSP00000514408.1:n.-260C>T
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