Canonical Allele Identifier: CA394351646

Gene: ABCA3

Linked Data

• MyVariant Identifiers: chr16:g.2376011C>G (hg19) ; chr16:g.2326010C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.2326010C>G , CM000678.2:g.2326010C>G	GRCh38
NC_000016.9:g.2376011C>G , CM000678.1:g.2376011C>G	GRCh37
NC_000016.8:g.2316012C>G	NCBI36
NG_011790.1:g.19737G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000301732.10:c.319G>C MANE Select	ENSP00000301732.5:p.Val107Leu
ENST00000301732.9:c.319G>C	ENSP00000301732.5:p.Val107Leu
ENST00000382381.7:c.319G>C	ENSP00000371818.3:p.Val107Leu
ENST00000563623.5:n.882G>C
ENST00000567910.1:c.319G>C	ENSP00000454397.1:p.Val107Leu
NM_001089.2:c.319G>C	NP_001080.2:p.Val107Leu
NM_001089.3:c.319G>C MANE Select	NP_001080.2:p.Val107Leu