Canonical Allele Identifier: CA361139411

Gene: SLC23A1

Linked Data

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

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000348729.8:c.925T>G MANE Select	ENSP00000302701.4:p.Cys309Gly
ENST00000348729.7:c.925T>G	ENSP00000302701.4:p.Cys309Gly
ENST00000353963.7:c.937T>G	ENSP00000302851.5:p.Cys313Gly
ENST00000504513.1:c.164+278T>G
ENST00000506512.1:n.536T>G
NM_005847.4:c.925T>G	NP_005838.3:p.Cys309Gly
NM_152685.3:c.937T>G	NP_689898.2:p.Cys313Gly
XM_005272148.3:c.1045T>G	XP_005272205.3:p.Cys349Gly
XM_005272149.3:c.1033T>G	XP_005272206.3:p.Cys345Gly
XM_006714741.2:c.1045T>G	XP_006714804.2:p.Cys349Gly
XM_011543765.1:c.1045T>G	XP_011542067.1:p.Cys349Gly
XM_011543766.1:c.826T>G	XP_011542068.1:p.Cys276Gly
XM_011543767.1:c.730T>G	XP_011542069.1:p.Cys244Gly
XM_011543768.1:c.610T>G	XP_011542070.1:p.Cys204Gly
XM_011543769.1:c.220T>G	XP_011542071.1:p.Cys74Gly
XM_005272149.4:c.1033T>G	XP_005272206.3:p.Cys345Gly
XM_011543765.2:c.1045T>G	XP_011542067.1:p.Cys349Gly
NM_005847.5:c.925T>G MANE Select	NP_005838.3:p.Cys309Gly
NM_152685.4:c.937T>G	NP_689898.2:p.Cys313Gly