Canonical Allele Identifier: CA394353320
Gene: ABCA3 HGNC NCBI

Linked Data

MyVariant Identifiers: chr16:g.2376428T>C (hg19) chr16:g.2326427T>C (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.2326427T>C , CM000678.2:g.2326427T>C GRCh38
NC_000016.9:g.2376428T>C , CM000678.1:g.2376428T>C GRCh37
NC_000016.8:g.2316429T>C NCBI36
NG_011790.1:g.19320A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000301732.10:c.40A>G MANE Select ENSP00000301732.5:p.Asn14Asp
ENST00000301732.9:c.40A>G ENSP00000301732.5:p.Asn14Asp
ENST00000382381.7:c.40A>G ENSP00000371818.3:p.Asn14Asp
ENST00000563623.5:n.603A>G
ENST00000567910.1:c.40A>G ENSP00000454397.1:p.Asn14Asp
NM_001089.2:c.40A>G NP_001080.2:p.Asn14Asp
NM_001089.3:c.40A>G MANE Select NP_001080.2:p.Asn14Asp
Search 100 bp 5'
Search 100 bp 3'