Canonical Allele Identifier: CA361139440

Gene: SLC23A1

Linked Data

• MyVariant Identifiers: chr5:g.138715381C>G (hg19) ; chr5:g.139379692C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.139379692C>G , CM000667.2:g.139379692C>G	GRCh38
NC_000005.9:g.138715381C>G , CM000667.1:g.138715381C>G	GRCh37
NC_000005.8:g.138743280C>G	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000348729.8:c.911G>C MANE Select	ENSP00000302701.4:p.Arg304Pro
ENST00000348729.7:c.911G>C	ENSP00000302701.4:p.Arg304Pro
ENST00000353963.7:c.923G>C	ENSP00000302851.5:p.Arg308Pro
ENST00000504513.1:c.164+264G>C
ENST00000506512.1:n.522G>C
NM_005847.4:c.911G>C	NP_005838.3:p.Arg304Pro
NM_152685.3:c.923G>C	NP_689898.2:p.Arg308Pro
XM_005272148.3:c.1031G>C	XP_005272205.3:p.Arg344Pro
XM_005272149.3:c.1019G>C	XP_005272206.3:p.Arg340Pro
XM_006714741.2:c.1031G>C	XP_006714804.2:p.Arg344Pro
XM_011543765.1:c.1031G>C	XP_011542067.1:p.Arg344Pro
XM_011543766.1:c.812G>C	XP_011542068.1:p.Arg271Pro
XM_011543767.1:c.716G>C	XP_011542069.1:p.Arg239Pro
XM_011543768.1:c.596G>C	XP_011542070.1:p.Arg199Pro
XM_011543769.1:c.206G>C	XP_011542071.1:p.Arg69Pro
XM_005272149.4:c.1019G>C	XP_005272206.3:p.Arg340Pro
XM_011543765.2:c.1031G>C	XP_011542067.1:p.Arg344Pro
NM_005847.5:c.911G>C MANE Select	NP_005838.3:p.Arg304Pro
NM_152685.4:c.923G>C	NP_689898.2:p.Arg308Pro