Canonical Allele Identifier: CA361139413

Gene: SLC23A1

Linked Data

• MyVariant Identifiers: chr5:g.138715367A>T (hg19) ; chr5:g.139379678A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.139379678A>T , CM000667.2:g.139379678A>T	GRCh38
NC_000005.9:g.138715367A>T , CM000667.1:g.138715367A>T	GRCh37
NC_000005.8:g.138743266A>T	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000348729.8:c.925T>A MANE Select	ENSP00000302701.4:p.Cys309Ser
ENST00000348729.7:c.925T>A	ENSP00000302701.4:p.Cys309Ser
ENST00000353963.7:c.937T>A	ENSP00000302851.5:p.Cys313Ser
ENST00000504513.1:c.164+278T>A
ENST00000506512.1:n.536T>A
NM_005847.4:c.925T>A	NP_005838.3:p.Cys309Ser
NM_152685.3:c.937T>A	NP_689898.2:p.Cys313Ser
XM_005272148.3:c.1045T>A	XP_005272205.3:p.Cys349Ser
XM_005272149.3:c.1033T>A	XP_005272206.3:p.Cys345Ser
XM_006714741.2:c.1045T>A	XP_006714804.2:p.Cys349Ser
XM_011543765.1:c.1045T>A	XP_011542067.1:p.Cys349Ser
XM_011543766.1:c.826T>A	XP_011542068.1:p.Cys276Ser
XM_011543767.1:c.730T>A	XP_011542069.1:p.Cys244Ser
XM_011543768.1:c.610T>A	XP_011542070.1:p.Cys204Ser
XM_011543769.1:c.220T>A	XP_011542071.1:p.Cys74Ser
XM_005272149.4:c.1033T>A	XP_005272206.3:p.Cys345Ser
XM_011543765.2:c.1045T>A	XP_011542067.1:p.Cys349Ser
NM_005847.5:c.925T>A MANE Select	NP_005838.3:p.Cys309Ser
NM_152685.4:c.937T>A	NP_689898.2:p.Cys313Ser