Canonical Allele Identifier: CA128242281

Gene: SLC23A1

Linked Data

• dbSNP Id: rs866364914
• gnomAD v2: 5-138715381-C-T
• gnomAD v4: 5-139379692-C-T
• MyVariant Identifiers: chr5:g.138715381C>T (hg19) ; chr5:g.139379692C>T (hg38)

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000348729.8:c.911G>A MANE Select	ENSP00000302701.4:p.Arg304His
ENST00000348729.7:c.911G>A	ENSP00000302701.4:p.Arg304His
ENST00000353963.7:c.923G>A	ENSP00000302851.5:p.Arg308His
ENST00000504513.1:c.164+264G>A
ENST00000506512.1:n.522G>A
NM_005847.4:c.911G>A	NP_005838.3:p.Arg304His
NM_152685.3:c.923G>A	NP_689898.2:p.Arg308His
XM_005272148.3:c.1031G>A	XP_005272205.3:p.Arg344His
XM_005272149.3:c.1019G>A	XP_005272206.3:p.Arg340His
XM_006714741.2:c.1031G>A	XP_006714804.2:p.Arg344His
XM_011543765.1:c.1031G>A	XP_011542067.1:p.Arg344His
XM_011543766.1:c.812G>A	XP_011542068.1:p.Arg271His
XM_011543767.1:c.716G>A	XP_011542069.1:p.Arg239His
XM_011543768.1:c.596G>A	XP_011542070.1:p.Arg199His
XM_011543769.1:c.206G>A	XP_011542071.1:p.Arg69His
XM_005272149.4:c.1019G>A	XP_005272206.3:p.Arg340His
XM_011543765.2:c.1031G>A	XP_011542067.1:p.Arg344His
NM_005847.5:c.911G>A MANE Select	NP_005838.3:p.Arg304His
NM_152685.4:c.923G>A	NP_689898.2:p.Arg308His