Canonical Allele Identifier: CA394306144

Gene: ABCA3

Linked Data

• gnomAD v4: 16-2278418-T-A
• MyVariant Identifiers: chr16:g.2328419T>A (hg19) ; chr16:g.2278418T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.2278418T>A , CM000678.2:g.2278418T>A	GRCh38
NC_000016.9:g.2328419T>A , CM000678.1:g.2328419T>A	GRCh37
NC_000016.8:g.2268420T>A	NCBI36
NG_011790.1:g.67329A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000301732.10:c.4588A>T MANE Select	ENSP00000301732.5:p.Ile1530Phe
ENST00000301732.9:c.4588A>T	ENSP00000301732.5:p.Ile1530Phe
ENST00000382381.7:c.4414A>T	ENSP00000371818.3:p.Ile1472Phe
ENST00000566200.1:n.1109A>T
NM_001089.2:c.4588A>T	NP_001080.2:p.Ile1530Phe
NM_001089.3:c.4588A>T MANE Select	NP_001080.2:p.Ile1530Phe