Canonical Allele Identifier: CA394305736

Gene: ABCA3

Linked Data

• MyVariant Identifiers: chr16:g.2328345C>G (hg19) ; chr16:g.2278344C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.2278344C>G , CM000678.2:g.2278344C>G	GRCh38
NC_000016.9:g.2328345C>G , CM000678.1:g.2328345C>G	GRCh37
NC_000016.8:g.2268346C>G	NCBI36
NG_011790.1:g.67403G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000301732.10:c.4662G>C MANE Select	ENSP00000301732.5:p.Trp1554Cys
ENST00000301732.9:c.4662G>C	ENSP00000301732.5:p.Trp1554Cys
ENST00000382381.7:c.4488G>C	ENSP00000371818.3:p.Trp1496Cys
ENST00000566200.1:n.1183G>C
NM_001089.2:c.4662G>C	NP_001080.2:p.Trp1554Cys
NM_001089.3:c.4662G>C MANE Select	NP_001080.2:p.Trp1554Cys