Canonical Allele Identifier: CA394316779

Gene: ABCA3

Linked Data

• MyVariant Identifiers: chr16:g.2335537A>G (hg19) ; chr16:g.2285536A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.2285536A>G , CM000678.2:g.2285536A>G	GRCh38
NC_000016.9:g.2335537A>G , CM000678.1:g.2335537A>G	GRCh37
NC_000016.8:g.2275538A>G	NCBI36
NG_011790.1:g.60211T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000301732.10:c.3389T>C MANE Select	ENSP00000301732.5:p.Val1130Ala
ENST00000301732.9:c.3389T>C	ENSP00000301732.5:p.Val1130Ala
ENST00000382381.7:c.3215T>C	ENSP00000371818.3:p.Val1072Ala
NM_001089.2:c.3389T>C	NP_001080.2:p.Val1130Ala
NM_001089.3:c.3389T>C MANE Select	NP_001080.2:p.Val1130Ala