Canonical Allele Identifier: CA361139422

Gene: SLC23A1

Linked Data

• dbSNP Id: rs1758137430
• gnomAD v3: 5-139379683-T-C
• gnomAD v4: 5-139379683-T-C
• MyVariant Identifiers: chr5:g.138715372T>C (hg19) ; chr5:g.139379683T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.139379683T>C , CM000667.2:g.139379683T>C	GRCh38
NC_000005.9:g.138715372T>C , CM000667.1:g.138715372T>C	GRCh37
NC_000005.8:g.138743271T>C	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000348729.8:c.920A>G MANE Select	ENSP00000302701.4:p.Tyr307Cys
ENST00000348729.7:c.920A>G	ENSP00000302701.4:p.Tyr307Cys
ENST00000353963.7:c.932A>G	ENSP00000302851.5:p.Tyr311Cys
ENST00000504513.1:c.164+273A>G
ENST00000506512.1:n.531A>G
NM_005847.4:c.920A>G	NP_005838.3:p.Tyr307Cys
NM_152685.3:c.932A>G	NP_689898.2:p.Tyr311Cys
XM_005272148.3:c.1040A>G	XP_005272205.3:p.Tyr347Cys
XM_005272149.3:c.1028A>G	XP_005272206.3:p.Tyr343Cys
XM_006714741.2:c.1040A>G	XP_006714804.2:p.Tyr347Cys
XM_011543765.1:c.1040A>G	XP_011542067.1:p.Tyr347Cys
XM_011543766.1:c.821A>G	XP_011542068.1:p.Tyr274Cys
XM_011543767.1:c.725A>G	XP_011542069.1:p.Tyr242Cys
XM_011543768.1:c.605A>G	XP_011542070.1:p.Tyr202Cys
XM_011543769.1:c.215A>G	XP_011542071.1:p.Tyr72Cys
XM_005272149.4:c.1028A>G	XP_005272206.3:p.Tyr343Cys
XM_011543765.2:c.1040A>G	XP_011542067.1:p.Tyr347Cys
NM_005847.5:c.920A>G MANE Select	NP_005838.3:p.Tyr307Cys
NM_152685.4:c.932A>G	NP_689898.2:p.Tyr311Cys