Canonical Allele Identifier: CA11580158
Gene: TBC1D5 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.18269920G>A , CM000665.2:g.18269920G>A GRCh38
NC_000003.11:g.18311412G>A , CM000665.1:g.18311412G>A GRCh37
NC_000003.10:g.18286416G>A NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000414318.2:n.211+174687C>T