Canonical Allele Identifier: CA2202169422
Gene: ABCA3 HGNC NCBI

Linked Data

ClinVar Variation Id: 2995577
ClinVar RCV Id: RCV003853664
dbSNP Id: rs2093734460
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Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.2326403C>G , CM000678.2:g.2326403C>G GRCh38
NC_000016.9:g.2376404C>G , CM000678.1:g.2376404C>G GRCh37
NC_000016.8:g.2316405C>G NCBI36
NG_011790.1:g.19344G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000301732.10:c.54+10G>C MANE Select ENSP00000301732.5:n.54+10G>C
ENST00000301732.9:c.54+10G>C ENSP00000301732.5:n.54+10G>C
ENST00000382381.7:c.54+10G>C ENSP00000371818.3:n.54+10G>C
ENST00000563623.5:n.617+10G>C
ENST00000567910.1:c.54+10G>C ENSP00000454397.1:n.54+10G>C
NM_001089.2:c.54+10G>C NP_001080.2:n.54+10G>C
NM_001089.3:c.54+10G>C MANE Select NP_001080.2:n.54+10G>C
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