Canonical Allele Identifier: CA387804448
Gene: SLC46A3 HGNC NCBI

Linked Data

ClinVar Variation Id: 2277495
ClinVar RCV Id: RCV004127126

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.28713319A>C , CM000675.2:g.28713319A>C GRCh38
NC_000013.10:g.29287456A>C , CM000675.1:g.29287456A>C GRCh37
NC_000013.9:g.28185456A>C NCBI36
NG_053189.1:g.10695T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000266943.11:c.421T>G MANE Select ENSP00000266943.7:p.Cys141Gly
ENST00000266943.10:c.421T>G ENSP00000266943.6:p.Cys141Gly
ENST00000380814.4:c.421T>G ENSP00000370192.4:p.Cys141Gly
NM_001135919.1:c.421T>G NP_001129391.1:p.Cys141Gly
NM_181785.3:c.421T>G NP_861450.1:p.Cys141Gly
XM_005266361.1:c.421T>G XP_005266418.1:p.Cys141Gly
NM_001347960.1:c.421T>G NP_001334889.1:p.Cys141Gly
XM_005266361.2:c.421T>G XP_005266418.1:p.Cys141Gly
NM_001135919.2:c.421T>G NP_001129391.1:p.Cys141Gly
NM_181785.4:c.421T>G MANE Select NP_861450.1:p.Cys141Gly
NM_001347960.2:c.421T>G NP_001334889.1:p.Cys141Gly