Canonical Allele Identifier: CA398355123

Gene: SLC46A1

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.28406112C>T , CM000679.2:g.28406112C>T	GRCh38
NC_000017.10:g.26733130C>T , CM000679.1:g.26733130C>T	GRCh37
NC_000017.9:g.23757257C>T	NCBI36
NG_013306.1:g.5099G>A , LRG_183:g.5099G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_080669.6:c.3G>A MANE Select	NP_542400.2:p.Met1Ile
ENST00000612814.5:c.3G>A MANE Select	ENSP00000480703.1:p.Met1Ile
NM_001242366.2:c.3G>A	NP_001229295.1:p.Met1Ile
NM_001242366.3:c.3G>A	NP_001229295.1:p.Met1Ile
NM_080669.5:c.3G>A	NP_542400.2:p.Met1Ile
ENST00000581516.1:c.-105-115G>A	ENSP00000462942.1:n.-105-115G>A
ENST00000582590.1:n.57G>A
ENST00000584426.1:c.-37+345G>A	ENSP00000467416.1:n.-37+345G>A
ENST00000584995.5:c.-105-115G>A	ENSP00000464190.1:n.-105-115G>A
ENST00000612814.4:c.3G>A	ENSP00000480703.1:p.Met1Ile
ENST00000618626.1:c.3G>A	ENSP00000483652.1:p.Met1Ile
XM_005277786.2:c.3G>A	XP_005277843.1:p.Met1Ile
XM_005277786.3:c.3G>A	XP_005277843.1:p.Met1Ile
XM_017024110.1:c.-105-115G>A	XP_016879599.1:n.-105-115G>A
XR_934643.1:n.90-404C>T