Canonical Allele Identifier: CA361140013

Gene: SLC23A1

Linked Data

• MyVariant Identifiers: chr5:g.138715504G>C (hg19) ; chr5:g.139379815G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.139379815G>C , CM000667.2:g.139379815G>C	GRCh38
NC_000005.9:g.138715504G>C , CM000667.1:g.138715504G>C	GRCh37
NC_000005.8:g.138743403G>C	NCBI36

Transcript Alleles

HGVS	Amino-acid change
ENST00000348729.8:c.788C>G MANE Select	ENSP00000302701.4:p.Thr263Ser
ENST00000348729.7:c.788C>G	ENSP00000302701.4:p.Thr263Ser
ENST00000353963.7:c.800C>G	ENSP00000302851.5:p.Thr267Ser
ENST00000504513.1:c.164+141C>G
ENST00000506512.1:n.399C>G
NM_005847.4:c.788C>G	NP_005838.3:p.Thr263Ser
NM_152685.3:c.800C>G	NP_689898.2:p.Thr267Ser
XM_005272148.3:c.908C>G	XP_005272205.3:p.Thr303Ser
XM_005272149.3:c.896C>G	XP_005272206.3:p.Thr299Ser
XM_006714741.2:c.908C>G	XP_006714804.2:p.Thr303Ser
XM_011543765.1:c.908C>G	XP_011542067.1:p.Thr303Ser
XM_011543766.1:c.689C>G	XP_011542068.1:p.Thr230Ser
XM_011543767.1:c.593C>G	XP_011542069.1:p.Thr198Ser
XM_011543768.1:c.473C>G	XP_011542070.1:p.Thr158Ser
XM_011543769.1:c.83C>G	XP_011542071.1:p.Thr28Ser
XM_005272149.4:c.896C>G	XP_005272206.3:p.Thr299Ser
XM_011543765.2:c.908C>G	XP_011542067.1:p.Thr303Ser
NM_005847.5:c.788C>G MANE Select	NP_005838.3:p.Thr263Ser
NM_152685.4:c.800C>G	NP_689898.2:p.Thr267Ser