Canonical Allele Identifier: CA398346934

Gene: SLC46A1

Linked Data

• MyVariant Identifiers: chr17:g.26731763T>G (hg19) ; chr17:g.28404745T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.28404745T>G , CM000679.2:g.28404745T>G	GRCh38
NC_000017.10:g.26731763T>G , CM000679.1:g.26731763T>G	GRCh37
NC_000017.9:g.23755890T>G	NCBI36
NG_013306.1:g.6466A>C , LRG_183:g.6466A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000612814.5:c.952A>C MANE Select	ENSP00000480703.1:p.Ser318Arg
ENST00000578217.1:n.91A>C
ENST00000582590.1:n.1006A>C
ENST00000582735.1:c.77A>C
ENST00000584995.5:c.730A>C	ENSP00000464190.1:p.Ser244Arg
ENST00000612814.4:c.952A>C	ENSP00000480703.1:p.Ser318Arg
ENST00000618626.1:c.952A>C	ENSP00000483652.1:p.Ser318Arg
NM_001242366.2:c.952A>C	NP_001229295.1:p.Ser318Arg
NM_080669.5:c.952A>C	NP_542400.2:p.Ser318Arg
XM_005277786.2:c.952A>C	XP_005277843.1:p.Ser318Arg
XM_005277786.3:c.952A>C	XP_005277843.1:p.Ser318Arg
XM_017024110.1:c.730A>C	XP_016879599.1:p.Ser244Arg
NM_080669.6:c.952A>C MANE Select	NP_542400.2:p.Ser318Arg
NM_001242366.3:c.952A>C	NP_001229295.1:p.Ser318Arg