Canonical Allele Identifier: CA394316614
Gene: ABCA3 HGNC NCBI

Linked Data

gnomAD v4: 16-2285499-C-G
MyVariant Identifiers: chr16:g.2335500C>G (hg19) chr16:g.2285499C>G (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.2285499C>G , CM000678.2:g.2285499C>G GRCh38
NC_000016.9:g.2335500C>G , CM000678.1:g.2335500C>G GRCh37
NC_000016.8:g.2275501C>G NCBI36
NG_011790.1:g.60248G>C

Transcript Alleles

HGVS Amino-acid change
ENST00000301732.10:c.3426G>C MANE Select ENSP00000301732.5:p.Trp1142Cys
ENST00000301732.9:c.3426G>C ENSP00000301732.5:p.Trp1142Cys
ENST00000382381.7:c.3252G>C ENSP00000371818.3:p.Trp1084Cys
NM_001089.2:c.3426G>C NP_001080.2:p.Trp1142Cys
NM_001089.3:c.3426G>C MANE Select NP_001080.2:p.Trp1142Cys
Search 100 bp 5'
Search 100 bp 3'