Canonical Allele Identifier: CA2202169355

Gene: ABCA3

Linked Data

• dbSNP Id: rs2093734348
• gnomAD v4: 16-2326326-G-A

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.2326326G>A , CM000678.2:g.2326326G>A	GRCh38
NC_000016.9:g.2376327G>A , CM000678.1:g.2376327G>A	GRCh37
NC_000016.8:g.2316328G>A	NCBI36
NG_011790.1:g.19421C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000301732.10:c.55-52C>T MANE Select	ENSP00000301732.5:n.55-52C>T
ENST00000301732.9:c.55-52C>T	ENSP00000301732.5:n.55-52C>T
ENST00000382381.7:c.55-52C>T	ENSP00000371818.3:n.55-52C>T
ENST00000563623.5:n.618-52C>T
ENST00000567910.1:c.55-52C>T	ENSP00000454397.1:n.55-52C>T
NM_001089.2:c.55-52C>T	NP_001080.2:n.55-52C>T
NM_001089.3:c.55-52C>T MANE Select	NP_001080.2:n.55-52C>T