Canonical Allele Identifier: CA2805588357

Gene: ABCA3 ABCA17P

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.2340719A>C , CM000678.2:g.2340719A>C	GRCh38
NC_000016.9:g.2390720A>C , CM000678.1:g.2390720A>C	GRCh37
NC_000016.8:g.2330721A>C	NCBI36
NG_011790.1:g.5028T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000301732.10:c.-685T>G (ABCA3) MANE Select	ENSP00000301732.5:n.-685T>G
ENST00000640929.1:n.42+1388A>C (ABCA17P)
ENST00000301732.9:c.-685T>G (ABCA3)	ENSP00000301732.5:n.-685T>G
ENST00000382381.7:c.-685T>G (ABCA3)	ENSP00000371818.3:n.-685T>G
ENST00000512848.5:n.182+1388A>C (ABCA17P)
NM_001089.2:c.-685T>G (ABCA3)	NP_001080.2:n.-685T>G
NM_001089.3:c.-685T>G (ABCA3) MANE Select	NP_001080.2:n.-685T>G