Canonical Allele Identifier: CA394305812

Gene: ABCA3

Linked Data

• gnomAD v4: 16-2278360-G-A
• MyVariant Identifiers: chr16:g.2328361G>A (hg19) ; chr16:g.2278360G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.2278360G>A , CM000678.2:g.2278360G>A	GRCh38
NC_000016.9:g.2328361G>A , CM000678.1:g.2328361G>A	GRCh37
NC_000016.8:g.2268362G>A	NCBI36
NG_011790.1:g.67387C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000301732.10:c.4646C>T MANE Select	ENSP00000301732.5:p.Ala1549Val
ENST00000301732.9:c.4646C>T	ENSP00000301732.5:p.Ala1549Val
ENST00000382381.7:c.4472C>T	ENSP00000371818.3:p.Ala1491Val
ENST00000566200.1:n.1167C>T
NM_001089.2:c.4646C>T	NP_001080.2:p.Ala1549Val
NM_001089.3:c.4646C>T MANE Select	NP_001080.2:p.Ala1549Val