Canonical Allele Identifier: CA247682989
Gene: SLC46A3 HGNC NCBI
ClinVar RCV:
ClinVar Variation:
gnomAD v4:
MyVariant.info:

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.28713520G>T , CM000675.2:g.28713520G>T GRCh38
NC_000013.10:g.29287657G>T , CM000675.1:g.29287657G>T GRCh37
NC_000013.9:g.28185657G>T NCBI36
NG_053189.1:g.10494C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000266943.11:c.220C>A MANE Select ENSP00000266943.7:p.Leu74Met
ENST00000266943.10:c.220C>A ENSP00000266943.6:p.Leu74Met
ENST00000380814.4:c.220C>A ENSP00000370192.4:p.Leu74Met
NM_001135919.1:c.220C>A NP_001129391.1:p.Leu74Met
NM_181785.3:c.220C>A NP_861450.1:p.Leu74Met
XM_005266361.1:c.220C>A XP_005266418.1:p.Leu74Met
NM_001347960.1:c.220C>A NP_001334889.1:p.Leu74Met
XM_005266361.2:c.220C>A XP_005266418.1:p.Leu74Met
NM_001135919.2:c.220C>A NP_001129391.1:p.Leu74Met
NM_181785.4:c.220C>A MANE Select NP_861450.1:p.Leu74Met
NM_001347960.2:c.220C>A NP_001334889.1:p.Leu74Met