Canonical Allele Identifier: CA394316634
Gene: ABCA3 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.2285505A>C , CM000678.2:g.2285505A>C GRCh38
NC_000016.9:g.2335506A>C , CM000678.1:g.2335506A>C GRCh37
NC_000016.8:g.2275507A>C NCBI36
NG_011790.1:g.60242T>G

Transcript Alleles

HGVS Amino-acid change
ENST00000301732.10:c.3420T>G MANE Select ENSP00000301732.5:p.Ser1140Arg
ENST00000301732.9:c.3420T>G ENSP00000301732.5:p.Ser1140Arg
ENST00000382381.7:c.3246T>G ENSP00000371818.3:p.Ser1082Arg
NM_001089.2:c.3420T>G NP_001080.2:p.Ser1140Arg
NM_001089.3:c.3420T>G MANE Select NP_001080.2:p.Ser1140Arg