Canonical Allele Identifier: CA394343750

Gene: ABCA3

Linked Data

• MyVariant Identifiers: chr16:g.2367734C>G (hg19) ; chr16:g.2317733C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.2317733C>G , CM000678.2:g.2317733C>G	GRCh38
NC_000016.9:g.2367734C>G , CM000678.1:g.2367734C>G	GRCh37
NC_000016.8:g.2307735C>G	NCBI36
NG_011790.1:g.28014G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000301732.10:c.905G>C MANE Select	ENSP00000301732.5:p.Trp302Ser
ENST00000301732.9:c.905G>C	ENSP00000301732.5:p.Trp302Ser
ENST00000382381.7:c.905G>C	ENSP00000371818.3:p.Trp302Ser
ENST00000563623.5:n.1468G>C
NM_001089.2:c.905G>C	NP_001080.2:p.Trp302Ser
NM_001089.3:c.905G>C MANE Select	NP_001080.2:p.Trp302Ser