Canonical Allele Identifier: CA446794046

Gene: SLC23A1

Linked Data

• MyVariant Identifiers: chr5:g.138715503G>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.139379814G>C , CM000667.2:g.139379814G>C	GRCh38
NC_000005.9:g.138715503G>C , CM000667.1:g.138715503G>C	GRCh37
NC_000005.8:g.138743402G>C	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000348729.8:c.789C>G MANE Select	ENSP00000302701.4:p.Thr263=
ENST00000348729.7:c.789C>G	ENSP00000302701.4:p.Thr263=
ENST00000353963.7:c.801C>G	ENSP00000302851.5:p.Thr267=
ENST00000504513.1:c.164+142C>G
ENST00000506512.1:n.400C>G
NM_005847.4:c.789C>G	NP_005838.3:p.Thr263=
NM_152685.3:c.801C>G	NP_689898.2:p.Thr267=
XM_005272148.3:c.909C>G	XP_005272205.3:p.Thr303=
XM_005272149.3:c.897C>G	XP_005272206.3:p.Thr299=
XM_006714741.2:c.909C>G	XP_006714804.2:p.Thr303=
XM_011543765.1:c.909C>G	XP_011542067.1:p.Thr303=
XM_011543766.1:c.690C>G	XP_011542068.1:p.Thr230=
XM_011543767.1:c.594C>G	XP_011542069.1:p.Thr198=
XM_011543768.1:c.474C>G	XP_011542070.1:p.Thr158=
XM_011543769.1:c.84C>G	XP_011542071.1:p.Thr28=
XM_005272149.4:c.897C>G	XP_005272206.3:p.Thr299=
XM_011543765.2:c.909C>G	XP_011542067.1:p.Thr303=
NM_005847.5:c.789C>G MANE Select	NP_005838.3:p.Thr263=
NM_152685.4:c.801C>G	NP_689898.2:p.Thr267=