Canonical Allele Identifier: CA394305866

Gene: ABCA3

Linked Data

• MyVariant Identifiers: chr16:g.2328371C>A (hg19) ; chr16:g.2278370C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.2278370C>A , CM000678.2:g.2278370C>A	GRCh38
NC_000016.9:g.2328371C>A , CM000678.1:g.2328371C>A	GRCh37
NC_000016.8:g.2268372C>A	NCBI36
NG_011790.1:g.67377G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000301732.10:c.4636G>T MANE Select	ENSP00000301732.5:p.Asp1546Tyr
ENST00000301732.9:c.4636G>T	ENSP00000301732.5:p.Asp1546Tyr
ENST00000382381.7:c.4462G>T	ENSP00000371818.3:p.Asp1488Tyr
ENST00000566200.1:n.1157G>T
NM_001089.2:c.4636G>T	NP_001080.2:p.Asp1546Tyr
NM_001089.3:c.4636G>T MANE Select	NP_001080.2:p.Asp1546Tyr