Canonical Allele Identifier: CA2254288675
Community Standard Title: NM_080669.6(SLC46A1):c.439G= (p.Gly147=)
Gene: SLC46A1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.28405258C= , CM000679.2:g.28405258C= GRCh38
NC_000017.10:g.26732276C= , CM000679.1:g.26732276C= GRCh37
NC_000017.9:g.23756403C= NCBI36
NG_013306.1:g.5953G= , LRG_183:g.5953G=

Transcript Alleles

HGVS Amino-acid Change
NM_080669.6:c.439G= MANE Select NP_542400.2:p.Gly147=
ENST00000612814.5:c.439G= MANE Select ENSP00000480703.1:p.Gly147=
NM_001242366.2:c.439G= NP_001229295.1:p.Gly147=
NM_001242366.3:c.439G= NP_001229295.1:p.Gly147=
NM_080669.5:c.439G= NP_542400.2:p.Gly147=
ENST00000578217.1:n.67+423G=
ENST00000582590.1:n.493G=
ENST00000584426.1:c.175G= ENSP00000467416.1:p.Gly59=
ENST00000584995.5:c.217G= ENSP00000464190.1:p.Gly73=
ENST00000612814.4:c.439G= ENSP00000480703.1:p.Gly147=
ENST00000618626.1:c.439G= ENSP00000483652.1:p.Gly147=
XM_005277786.2:c.439G= XP_005277843.1:p.Gly147=
XM_005277786.3:c.439G= XP_005277843.1:p.Gly147=
XM_017024110.1:c.217G= XP_016879599.1:p.Gly73=