Canonical Allele Identifier: CA2202178567
Gene: ABCA3 HGNC NCBI
ABCA17P HGNC NCBI
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.2340517G= , CM000678.2:g.2340517G= GRCh38
NC_000016.9:g.2390518G= , CM000678.1:g.2390518G= GRCh37
NC_000016.8:g.2330519G= NCBI36
NG_011790.1:g.5230C=

Transcript Alleles

HGVS Amino-acid change
ENST00000301732.10:c.-539+56C= (ABCA3) MANE Select ENSP00000301732.5:n.-539+56C=
ENST00000640929.1:n.42+1186G= (ABCA17P)
ENST00000301732.9:c.-539+56C= (ABCA3) ENSP00000301732.5:n.-539+56C=
ENST00000382381.7:c.-539+56C= (ABCA3) ENSP00000371818.3:n.-539+56C=
ENST00000512848.5:n.182+1186G= (ABCA17P)
ENST00000563623.5:n.25+56C= (ABCA3)
NM_001089.2:c.-539+56C= (ABCA3) NP_001080.2:n.-539+56C=
NM_001089.3:c.-539+56C= (ABCA3) MANE Select NP_001080.2:n.-539+56C=
Search 100 bp 5'
Search 100 bp 3'