Canonical Allele Identifier: CA128242319

Gene: SLC23A1

Linked Data

• dbSNP Id: rs374118860
• gnomAD v4: 5-139379711-C-T
• MyVariant Identifiers: chr5:g.138715400C>T (hg19) ; chr5:g.139379711C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.139379711C>T , CM000667.2:g.139379711C>T	GRCh38
NC_000005.9:g.138715400C>T , CM000667.1:g.138715400C>T	GRCh37
NC_000005.8:g.138743299C>T	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000348729.8:c.892G>A MANE Select	ENSP00000302701.4:p.Ala298Thr
ENST00000348729.7:c.892G>A	ENSP00000302701.4:p.Ala298Thr
ENST00000353963.7:c.904G>A	ENSP00000302851.5:p.Ala302Thr
ENST00000504513.1:c.164+245G>A
ENST00000506512.1:n.503G>A
NM_005847.4:c.892G>A	NP_005838.3:p.Ala298Thr
NM_152685.3:c.904G>A	NP_689898.2:p.Ala302Thr
XM_005272148.3:c.1012G>A	XP_005272205.3:p.Ala338Thr
XM_005272149.3:c.1000G>A	XP_005272206.3:p.Ala334Thr
XM_006714741.2:c.1012G>A	XP_006714804.2:p.Ala338Thr
XM_011543765.1:c.1012G>A	XP_011542067.1:p.Ala338Thr
XM_011543766.1:c.793G>A	XP_011542068.1:p.Ala265Thr
XM_011543767.1:c.697G>A	XP_011542069.1:p.Ala233Thr
XM_011543768.1:c.577G>A	XP_011542070.1:p.Ala193Thr
XM_011543769.1:c.187G>A	XP_011542071.1:p.Ala63Thr
XM_005272149.4:c.1000G>A	XP_005272206.3:p.Ala334Thr
XM_011543765.2:c.1012G>A	XP_011542067.1:p.Ala338Thr
NM_005847.5:c.892G>A MANE Select	NP_005838.3:p.Ala298Thr
NM_152685.4:c.904G>A	NP_689898.2:p.Ala302Thr