Canonical Allele Identifier: CA2202178596

Gene: ABCA3 ABCA17P

Linked Data

• dbSNP Id: rs1165312383
• gnomAD v4: 16-2340550-C-T

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.2340550C>T , CM000678.2:g.2340550C>T	GRCh38
NC_000016.9:g.2390551C>T , CM000678.1:g.2390551C>T	GRCh37
NC_000016.8:g.2330552C>T	NCBI36
NG_011790.1:g.5197G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000301732.10:c.-539+23G>A (ABCA3) MANE Select	ENSP00000301732.5:n.-539+23G>A
ENST00000640929.1:n.42+1219C>T (ABCA17P)
ENST00000301732.9:c.-539+23G>A (ABCA3)	ENSP00000301732.5:n.-539+23G>A
ENST00000382381.7:c.-539+23G>A (ABCA3)	ENSP00000371818.3:n.-539+23G>A
ENST00000512848.5:n.182+1219C>T (ABCA17P)
ENST00000563623.5:n.25+23G>A (ABCA3)
NM_001089.2:c.-539+23G>A (ABCA3)	NP_001080.2:n.-539+23G>A
NM_001089.3:c.-539+23G>A (ABCA3) MANE Select	NP_001080.2:n.-539+23G>A