Canonical Allele Identifier: CA493125536
Gene: ABCA3 HGNC NCBI

Linked Data

dbSNP Id: rs1173003036
gnomAD v2: 16-2335574-G-A
MyVariant Identifiers: chr16:g.2335574G>A (hg19) chr16:g.2285573G>A (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.2285573G>A , CM000678.2:g.2285573G>A GRCh38
NC_000016.9:g.2335574G>A , CM000678.1:g.2335574G>A GRCh37
NC_000016.8:g.2275575G>A NCBI36
NG_011790.1:g.60174C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000301732.10:c.3352C>T MANE Select ENSP00000301732.5:p.Leu1118=
ENST00000301732.9:c.3352C>T ENSP00000301732.5:p.Leu1118=
ENST00000382381.7:c.3178C>T ENSP00000371818.3:p.Leu1060=
NM_001089.2:c.3352C>T NP_001080.2:p.Leu1118=
NM_001089.3:c.3352C>T MANE Select NP_001080.2:p.Leu1118=
Search 100 bp 5'
Search 100 bp 3'