Canonical Allele Identifier: CA2254288481
Community Standard Title: NM_080669.6(SLC46A1):c.954C= (p.Ser318=)
Gene: SLC46A1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.28404743G= , CM000679.2:g.28404743G= GRCh38
NC_000017.10:g.26731761G= , CM000679.1:g.26731761G= GRCh37
NC_000017.9:g.23755888G= NCBI36
NG_013306.1:g.6468C= , LRG_183:g.6468C=

Transcript Alleles

HGVS Amino-acid Change
NM_080669.6:c.954C= MANE Select NP_542400.2:p.Ser318=
ENST00000612814.5:c.954C= MANE Select ENSP00000480703.1:p.Ser318=
NM_001242366.2:c.954C= NP_001229295.1:p.Ser318=
NM_001242366.3:c.954C= NP_001229295.1:p.Ser318=
NM_080669.5:c.954C= NP_542400.2:p.Ser318=
ENST00000578217.1:n.93C=
ENST00000582590.1:n.1008C=
ENST00000582735.1:c.79C=
ENST00000584995.5:c.732C= ENSP00000464190.1:p.Ser244=
ENST00000612814.4:c.954C= ENSP00000480703.1:p.Ser318=
ENST00000618626.1:c.954C= ENSP00000483652.1:p.Ser318=
XM_005277786.2:c.954C= XP_005277843.1:p.Ser318=
XM_005277786.3:c.954C= XP_005277843.1:p.Ser318=
XM_017024110.1:c.732C= XP_016879599.1:p.Ser244=