Canonical Allele Identifier: CA2636826870
Gene: SLC46A1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.28405835C>T , CM000679.2:g.28405835C>T GRCh38
NC_000017.10:g.26732853C>T , CM000679.1:g.26732853C>T GRCh37
NC_000017.9:g.23756980C>T NCBI36
NG_013306.1:g.5376G>A , LRG_183:g.5376G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000612814.5:c.228+52G>A MANE Select ENSP00000480703.1:n.228+52G>A
ENST00000581516.1:c.6+52G>A ENSP00000462942.1:n.6+52G>A
ENST00000582590.1:n.282+52G>A
ENST00000584426.1:c.-36-367G>A ENSP00000467416.1:n.-36-367G>A
ENST00000584995.5:c.6+52G>A ENSP00000464190.1:n.6+52G>A
ENST00000612814.4:c.228+52G>A ENSP00000480703.1:n.228+52G>A
ENST00000618626.1:c.228+52G>A ENSP00000483652.1:n.228+52G>A
NM_001242366.2:c.228+52G>A NP_001229295.1:n.228+52G>A
NM_080669.5:c.228+52G>A NP_542400.2:n.228+52G>A
XM_005277786.2:c.228+52G>A XP_005277843.1:n.228+52G>A
XR_934643.1:n.89+384C>T
XM_005277786.3:c.228+52G>A XP_005277843.1:n.228+52G>A
XM_017024110.1:c.6+52G>A XP_016879599.1:n.6+52G>A
NM_080669.6:c.228+52G>A MANE Select NP_542400.2:n.228+52G>A
NM_001242366.3:c.228+52G>A NP_001229295.1:n.228+52G>A