Canonical Allele Identifier: CA499420242

Gene: SLC46A1

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.28405196G>C , CM000679.2:g.28405196G>C	GRCh38
NC_000017.10:g.26732214G>C , CM000679.1:g.26732214G>C	GRCh37
NC_000017.9:g.23756341G>C	NCBI36
NG_013306.1:g.6015C>G , LRG_183:g.6015C>G

Transcript Alleles

HGVS	Amino-acid Change
NM_080669.6:c.501C>G MANE Select	NP_542400.2:p.Ser167=
ENST00000612814.5:c.501C>G MANE Select	ENSP00000480703.1:p.Ser167=
NM_001242366.2:c.501C>G	NP_001229295.1:p.Ser167=
NM_001242366.3:c.501C>G	NP_001229295.1:p.Ser167=
NM_080669.5:c.501C>G	NP_542400.2:p.Ser167=
ENST00000578217.1:n.68-428C>G
ENST00000582590.1:n.555C>G
ENST00000584426.1:c.237C>G	ENSP00000467416.1:p.Ser79=
ENST00000584995.5:c.279C>G	ENSP00000464190.1:p.Ser93=
ENST00000612814.4:c.501C>G	ENSP00000480703.1:p.Ser167=
ENST00000618626.1:c.501C>G	ENSP00000483652.1:p.Ser167=
XM_005277786.2:c.501C>G	XP_005277843.1:p.Ser167=
XM_005277786.3:c.501C>G	XP_005277843.1:p.Ser167=
XM_017024110.1:c.279C>G	XP_016879599.1:p.Ser93=