Canonical Allele Identifier: CA2202146192
Gene: ABCA3 HGNC NCBI

Linked Data

dbSNP Id: rs1596826967
gnomAD v4: 16-2278256-A-C
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.2278256A>C , CM000678.2:g.2278256A>C GRCh38
NC_000016.9:g.2328257A>C , CM000678.1:g.2328257A>C GRCh37
NC_000016.8:g.2268258A>C NCBI36
NG_011790.1:g.67491T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000301732.10:c.4718+32T>G MANE Select ENSP00000301732.5:n.4718+32T>G
ENST00000301732.9:c.4718+32T>G ENSP00000301732.5:n.4718+32T>G
ENST00000382381.7:c.4544+32T>G ENSP00000371818.3:n.4544+32T>G
NM_001089.2:c.4718+32T>G NP_001080.2:n.4718+32T>G
NM_001089.3:c.4718+32T>G MANE Select NP_001080.2:n.4718+32T>G
Search 100 bp 5'
Search 100 bp 3'