Canonical Allele Identifier: CA493167082
Gene: ABCA3 HGNC NCBI

Linked Data

MyVariant Identifiers: chr16:g.2367661G>C (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.2317660G>C , CM000678.2:g.2317660G>C GRCh38
NC_000016.9:g.2367661G>C , CM000678.1:g.2367661G>C GRCh37
NC_000016.8:g.2307662G>C NCBI36
NG_011790.1:g.28087C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000301732.10:c.978C>G MANE Select ENSP00000301732.5:p.Leu326=
ENST00000301732.9:c.978C>G ENSP00000301732.5:p.Leu326=
ENST00000382381.7:c.978C>G ENSP00000371818.3:p.Leu326=
ENST00000563623.5:n.1541C>G
NM_001089.2:c.978C>G NP_001080.2:p.Leu326=
NM_001089.3:c.978C>G MANE Select NP_001080.2:p.Leu326=