Canonical Allele Identifier: CA394343615

Gene: ABCA3

Linked Data

• gnomAD v4: 16-2317718-G-A
• MyVariant Identifiers: chr16:g.2367719G>A (hg19) ; chr16:g.2317718G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.2317718G>A , CM000678.2:g.2317718G>A	GRCh38
NC_000016.9:g.2367719G>A , CM000678.1:g.2367719G>A	GRCh37
NC_000016.8:g.2307720G>A	NCBI36
NG_011790.1:g.28029C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000301732.10:c.920C>T MANE Select	ENSP00000301732.5:p.Ala307Val
ENST00000301732.9:c.920C>T	ENSP00000301732.5:p.Ala307Val
ENST00000382381.7:c.920C>T	ENSP00000371818.3:p.Ala307Val
ENST00000563623.5:n.1483C>T
NM_001089.2:c.920C>T	NP_001080.2:p.Ala307Val
NM_001089.3:c.920C>T MANE Select	NP_001080.2:p.Ala307Val