Canonical Allele Identifier: CA2202158187
Gene: ABCA3 HGNC NCBI
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.2299669G= , CM000678.2:g.2299669G= GRCh38
NC_000016.9:g.2349670G= , CM000678.1:g.2349670G= GRCh37
NC_000016.8:g.2289671G= NCBI36
NG_011790.1:g.46078C=

Transcript Alleles

HGVS Amino-acid change
ENST00000301732.10:c.1612-137C= MANE Select ENSP00000301732.5:n.1612-137C=
ENST00000301732.9:c.1612-137C= ENSP00000301732.5:n.1612-137C=
ENST00000382381.7:c.1438-137C= ENSP00000371818.3:n.1438-137C=
ENST00000563623.5:n.2175-137C=
NM_001089.2:c.1612-137C= NP_001080.2:n.1612-137C=
NM_001089.3:c.1612-137C= MANE Select NP_001080.2:n.1612-137C=
Search 100 bp 5'
Search 100 bp 3'