Canonical Allele Identifier: CA394353301
Gene: ABCA3 HGNC NCBI

Linked Data

ClinVar Variation Id: 2152257
ClinVar RCV Id: RCV003079202
MyVariant Identifiers: chr16:g.2376426G>C (hg19) chr16:g.2326425G>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.2326425G>C , CM000678.2:g.2326425G>C GRCh38
NC_000016.9:g.2376426G>C , CM000678.1:g.2376426G>C GRCh37
NC_000016.8:g.2316427G>C NCBI36
NG_011790.1:g.19322C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000301732.10:c.42C>G MANE Select ENSP00000301732.5:p.Asn14Lys
ENST00000301732.9:c.42C>G ENSP00000301732.5:p.Asn14Lys
ENST00000382381.7:c.42C>G ENSP00000371818.3:p.Asn14Lys
ENST00000563623.5:n.605C>G
ENST00000567910.1:c.42C>G ENSP00000454397.1:p.Asn14Lys
NM_001089.2:c.42C>G NP_001080.2:p.Asn14Lys
NM_001089.3:c.42C>G MANE Select NP_001080.2:p.Asn14Lys
Search 100 bp 5'
Search 100 bp 3'