Canonical Allele Identifier: CA2254288896
Gene: SLC46A1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.28405758C= , CM000679.2:g.28405758C= GRCh38
NC_000017.10:g.26732776C= , CM000679.1:g.26732776C= GRCh37
NC_000017.9:g.23756903C= NCBI36
NG_013306.1:g.5453G= , LRG_183:g.5453G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000612814.5:c.228+129G= MANE Select ENSP00000480703.1:n.228+129G=
ENST00000581516.1:c.6+129G= ENSP00000462942.1:n.6+129G=
ENST00000582590.1:n.282+129G=
ENST00000584426.1:c.-36-290G= ENSP00000467416.1:n.-36-290G=
ENST00000584995.5:c.6+129G= ENSP00000464190.1:n.6+129G=
ENST00000612814.4:c.228+129G= ENSP00000480703.1:n.228+129G=
ENST00000618626.1:c.228+129G= ENSP00000483652.1:n.228+129G=
NM_001242366.2:c.228+129G= NP_001229295.1:n.228+129G=
NM_080669.5:c.228+129G= NP_542400.2:n.228+129G=
XM_005277786.2:c.228+129G= XP_005277843.1:n.228+129G=
XR_934643.1:n.89+307C=
XM_005277786.3:c.228+129G= XP_005277843.1:n.228+129G=
XM_017024110.1:c.6+129G= XP_016879599.1:n.6+129G=
NM_080669.6:c.228+129G= MANE Select NP_542400.2:n.228+129G=
NM_001242366.3:c.228+129G= NP_001229295.1:n.228+129G=