Canonical Allele Identifier: CA394317307

Gene: ABCA3

Linked Data

• MyVariant Identifiers: chr16:g.2335606G>C (hg19) ; chr16:g.2285605G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.2285605G>C , CM000678.2:g.2285605G>C	GRCh38
NC_000016.9:g.2335606G>C , CM000678.1:g.2335606G>C	GRCh37
NC_000016.8:g.2275607G>C	NCBI36
NG_011790.1:g.60142C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000301732.10:c.3320C>G MANE Select	ENSP00000301732.5:p.Ala1107Gly
ENST00000301732.9:c.3320C>G	ENSP00000301732.5:p.Ala1107Gly
ENST00000382381.7:c.3146C>G	ENSP00000371818.3:p.Ala1049Gly
NM_001089.2:c.3320C>G	NP_001080.2:p.Ala1107Gly
NM_001089.3:c.3320C>G MANE Select	NP_001080.2:p.Ala1107Gly