Canonical Allele Identifier: CA2838208111

Gene: GGACT

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.100566069C>G , CM000675.2:g.100566069C>G	GRCh38
NC_000013.10:g.101218323C>G , CM000675.1:g.101218323C>G	GRCh37
NC_000013.9:g.100016324C>G	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000683975.1:c.-11+17756G>C MANE Select	ENSP00000508020.1:n.-11+17756G>C
ENST00000376250.6:c.-223+17756G>C	ENSP00000365426.1:n.-223+17756G>C
ENST00000471912.1:c.-11+17756G>C	ENSP00000471716.1:n.-11+17756G>C
ENST00000492399.5:c.-11+17756G>C	ENSP00000471342.1:n.-11+17756G>C
NM_001195087.1:c.-11+17756G>C	NP_001182016.1:n.-11+17756G>C
NM_001195087.2:c.-11+17756G>C MANE Select	NP_001182016.1:n.-11+17756G>C