Canonical Allele Identifier: CA2254288889
Gene: SLC46A1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.28405734G= , CM000679.2:g.28405734G= GRCh38
NC_000017.10:g.26732752G= , CM000679.1:g.26732752G= GRCh37
NC_000017.9:g.23756879G= NCBI36
NG_013306.1:g.5477C= , LRG_183:g.5477C=

Transcript Alleles

HGVS Amino-acid change
ENST00000612814.5:c.228+153C= MANE Select ENSP00000480703.1:n.228+153C=
ENST00000578217.1:n.14C=
ENST00000581516.1:c.6+153C= ENSP00000462942.1:n.6+153C=
ENST00000582590.1:n.282+153C=
ENST00000584426.1:c.-36-266C= ENSP00000467416.1:n.-36-266C=
ENST00000584995.5:c.6+153C= ENSP00000464190.1:n.6+153C=
ENST00000612814.4:c.228+153C= ENSP00000480703.1:n.228+153C=
ENST00000618626.1:c.228+153C= ENSP00000483652.1:n.228+153C=
NM_001242366.2:c.228+153C= NP_001229295.1:n.228+153C=
NM_080669.5:c.228+153C= NP_542400.2:n.228+153C=
XM_005277786.2:c.228+153C= XP_005277843.1:n.228+153C=
XR_934643.1:n.89+283G=
XM_005277786.3:c.228+153C= XP_005277843.1:n.228+153C=
XM_017024110.1:c.6+153C= XP_016879599.1:n.6+153C=
NM_080669.6:c.228+153C= MANE Select NP_542400.2:n.228+153C=
NM_001242366.3:c.228+153C= NP_001229295.1:n.228+153C=