Canonical Allele Identifier: CA361140029

Gene: SLC23A1

Linked Data

• dbSNP Id: rs2152070839
• MyVariant Identifiers: chr5:g.138715505T>C (hg19) ; chr5:g.139379816T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.139379816T>C , CM000667.2:g.139379816T>C	GRCh38
NC_000005.9:g.138715505T>C , CM000667.1:g.138715505T>C	GRCh37
NC_000005.8:g.138743404T>C	NCBI36

Transcript Alleles

HGVS	Amino-acid change
ENST00000348729.8:c.787A>G MANE Select	ENSP00000302701.4:p.Thr263Ala
ENST00000348729.7:c.787A>G	ENSP00000302701.4:p.Thr263Ala
ENST00000353963.7:c.799A>G	ENSP00000302851.5:p.Thr267Ala
ENST00000504513.1:c.164+140A>G
ENST00000506512.1:n.398A>G
NM_005847.4:c.787A>G	NP_005838.3:p.Thr263Ala
NM_152685.3:c.799A>G	NP_689898.2:p.Thr267Ala
XM_005272148.3:c.907A>G	XP_005272205.3:p.Thr303Ala
XM_005272149.3:c.895A>G	XP_005272206.3:p.Thr299Ala
XM_006714741.2:c.907A>G	XP_006714804.2:p.Thr303Ala
XM_011543765.1:c.907A>G	XP_011542067.1:p.Thr303Ala
XM_011543766.1:c.688A>G	XP_011542068.1:p.Thr230Ala
XM_011543767.1:c.592A>G	XP_011542069.1:p.Thr198Ala
XM_011543768.1:c.472A>G	XP_011542070.1:p.Thr158Ala
XM_011543769.1:c.82A>G	XP_011542071.1:p.Thr28Ala
XM_005272149.4:c.895A>G	XP_005272206.3:p.Thr299Ala
XM_011543765.2:c.907A>G	XP_011542067.1:p.Thr303Ala
NM_005847.5:c.787A>G MANE Select	NP_005838.3:p.Thr263Ala
NM_152685.4:c.799A>G	NP_689898.2:p.Thr267Ala