Canonical Allele Identifier: CA394316654
Gene: ABCA3 HGNC NCBI

Linked Data

MyVariant Identifiers: chr16:g.2335511C>G (hg19) chr16:g.2285510C>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.2285510C>G , CM000678.2:g.2285510C>G GRCh38
NC_000016.9:g.2335511C>G , CM000678.1:g.2335511C>G GRCh37
NC_000016.8:g.2275512C>G NCBI36
NG_011790.1:g.60237G>C

Transcript Alleles

HGVS Amino-acid change
ENST00000301732.10:c.3415G>C MANE Select ENSP00000301732.5:p.Ala1139Pro
ENST00000301732.9:c.3415G>C ENSP00000301732.5:p.Ala1139Pro
ENST00000382381.7:c.3241G>C ENSP00000371818.3:p.Ala1081Pro
NM_001089.2:c.3415G>C NP_001080.2:p.Ala1139Pro
NM_001089.3:c.3415G>C MANE Select NP_001080.2:p.Ala1139Pro
Search 100 bp 5'
Search 100 bp 3'