Canonical Allele Identifier: CA2202146314
Gene: ABCA3 HGNC NCBI

Linked Data

dbSNP Id: rs1596827295
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.2278481T>G , CM000678.2:g.2278481T>G GRCh38
NC_000016.9:g.2328482T>G , CM000678.1:g.2328482T>G GRCh37
NC_000016.8:g.2268483T>G NCBI36
NG_011790.1:g.67266A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000301732.10:c.4548-23A>C MANE Select ENSP00000301732.5:n.4548-23A>C
ENST00000301732.9:c.4548-23A>C ENSP00000301732.5:n.4548-23A>C
ENST00000382381.7:c.4374-23A>C ENSP00000371818.3:n.4374-23A>C
ENST00000566200.1:n.1069-23A>C
NM_001089.2:c.4548-23A>C NP_001080.2:n.4548-23A>C
NM_001089.3:c.4548-23A>C MANE Select NP_001080.2:n.4548-23A>C
Search 100 bp 5'
Search 100 bp 3'