Canonical Allele Identifier: CA2805587351
Gene: ABCA3 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.2315139T>G , CM000678.2:g.2315139T>G GRCh38
NC_000016.9:g.2365140T>G , CM000678.1:g.2365140T>G GRCh37
NC_000016.8:g.2305141T>G NCBI36
NG_011790.1:g.30608A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000301732.10:c.1111+2144A>C MANE Select ENSP00000301732.5:n.1111+2144A>C
ENST00000301732.9:c.1111+2144A>C ENSP00000301732.5:n.1111+2144A>C
ENST00000382381.7:c.1111+2144A>C ENSP00000371818.3:n.1111+2144A>C
ENST00000563623.5:n.1674+2144A>C
NM_001089.2:c.1111+2144A>C NP_001080.2:n.1111+2144A>C
NM_001089.3:c.1111+2144A>C MANE Select NP_001080.2:n.1111+2144A>C