Canonical Allele Identifier: CA2018024274
Gene: SLC46A3 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.28704313T>A , CM000675.2:g.28704313T>A GRCh38
NC_000013.10:g.29278450T>A , CM000675.1:g.29278450T>A GRCh37
NC_000013.9:g.28176450T>A NCBI36
NG_053189.1:g.19701A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000266943.11:c.1145-214A>T MANE Select ENSP00000266943.7:n.1145-214A>T
ENST00000266943.10:c.1145-214A>T ENSP00000266943.6:n.1145-214A>T
ENST00000380814.4:c.1145-214A>T ENSP00000370192.4:n.1145-214A>T
ENST00000475385.1:n.245A>T
NM_001135919.1:c.1145-214A>T NP_001129391.1:n.1145-214A>T
NM_181785.3:c.1145-214A>T NP_861450.1:n.1145-214A>T
XM_005266361.1:c.1145-214A>T XP_005266418.1:n.1145-214A>T
NM_001347960.1:c.1145-214A>T NP_001334889.1:n.1145-214A>T
XM_005266361.2:c.1145-214A>T XP_005266418.1:n.1145-214A>T
NM_001135919.2:c.1145-214A>T NP_001129391.1:n.1145-214A>T
NM_181785.4:c.1145-214A>T MANE Select NP_861450.1:n.1145-214A>T
NM_001347960.2:c.1145-214A>T NP_001334889.1:n.1145-214A>T