Canonical Allele Identifier: CA2202158126
Gene: ABCA3 HGNC NCBI
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.2299562T= , CM000678.2:g.2299562T= GRCh38
NC_000016.9:g.2349563T= , CM000678.1:g.2349563T= GRCh37
NC_000016.8:g.2289564T= NCBI36
NG_011790.1:g.46185A=

Transcript Alleles

HGVS Amino-acid Change
ENST00000301732.10:c.1612-30A= MANE Select ENSP00000301732.5:n.1612-30A=
ENST00000301732.9:c.1612-30A= ENSP00000301732.5:n.1612-30A=
ENST00000382381.7:c.1438-30A= ENSP00000371818.3:n.1438-30A=
ENST00000563623.5:n.2175-30A=
NM_001089.2:c.1612-30A= NP_001080.2:n.1612-30A=
NM_001089.3:c.1612-30A= MANE Select NP_001080.2:n.1612-30A=
Search 100 bp 5'
Search 100 bp 3'