Canonical Allele Identifier: CA394351748
Gene: ABCA3 HGNC NCBI

Linked Data

MyVariant Identifiers: chr16:g.2376026C>G (hg19) chr16:g.2326025C>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.2326025C>G , CM000678.2:g.2326025C>G GRCh38
NC_000016.9:g.2376026C>G , CM000678.1:g.2376026C>G GRCh37
NC_000016.8:g.2316027C>G NCBI36
NG_011790.1:g.19722G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000301732.10:c.304G>C MANE Select ENSP00000301732.5:p.Val102Leu
ENST00000301732.9:c.304G>C ENSP00000301732.5:p.Val102Leu
ENST00000382381.7:c.304G>C ENSP00000371818.3:p.Val102Leu
ENST00000563623.5:n.867G>C
ENST00000567910.1:c.304G>C ENSP00000454397.1:p.Val102Leu
NM_001089.2:c.304G>C NP_001080.2:p.Val102Leu
NM_001089.3:c.304G>C MANE Select NP_001080.2:p.Val102Leu
Search 100 bp 5'
Search 100 bp 3'