Canonical Allele Identifier: CA394343807

Gene: ABCA3

Linked Data

• gnomAD v4: 16-2317739-C-T
• MyVariant Identifiers: chr16:g.2367740C>T (hg19) ; chr16:g.2317739C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.2317739C>T , CM000678.2:g.2317739C>T	GRCh38
NC_000016.9:g.2367740C>T , CM000678.1:g.2367740C>T	GRCh37
NC_000016.8:g.2307741C>T	NCBI36
NG_011790.1:g.28008G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000301732.10:c.899G>A MANE Select	ENSP00000301732.5:p.Ser300Asn
ENST00000301732.9:c.899G>A	ENSP00000301732.5:p.Ser300Asn
ENST00000382381.7:c.899G>A	ENSP00000371818.3:p.Ser300Asn
ENST00000563623.5:n.1462G>A
NM_001089.2:c.899G>A	NP_001080.2:p.Ser300Asn
NM_001089.3:c.899G>A MANE Select	NP_001080.2:p.Ser300Asn