Canonical Allele Identifier: CA361139442

Gene: SLC23A1

Linked Data

• dbSNP Id: rs1266638544
• gnomAD v2: 5-138715382-G-C
• gnomAD v4: 5-139379693-G-C
• MyVariant Identifiers: chr5:g.138715382G>C (hg19) ; chr5:g.139379693G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.139379693G>C , CM000667.2:g.139379693G>C	GRCh38
NC_000005.9:g.138715382G>C , CM000667.1:g.138715382G>C	GRCh37
NC_000005.8:g.138743281G>C	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000348729.8:c.910C>G MANE Select	ENSP00000302701.4:p.Arg304Gly
ENST00000348729.7:c.910C>G	ENSP00000302701.4:p.Arg304Gly
ENST00000353963.7:c.922C>G	ENSP00000302851.5:p.Arg308Gly
ENST00000504513.1:c.164+263C>G
ENST00000506512.1:n.521C>G
NM_005847.4:c.910C>G	NP_005838.3:p.Arg304Gly
NM_152685.3:c.922C>G	NP_689898.2:p.Arg308Gly
XM_005272148.3:c.1030C>G	XP_005272205.3:p.Arg344Gly
XM_005272149.3:c.1018C>G	XP_005272206.3:p.Arg340Gly
XM_006714741.2:c.1030C>G	XP_006714804.2:p.Arg344Gly
XM_011543765.1:c.1030C>G	XP_011542067.1:p.Arg344Gly
XM_011543766.1:c.811C>G	XP_011542068.1:p.Arg271Gly
XM_011543767.1:c.715C>G	XP_011542069.1:p.Arg239Gly
XM_011543768.1:c.595C>G	XP_011542070.1:p.Arg199Gly
XM_011543769.1:c.205C>G	XP_011542071.1:p.Arg69Gly
XM_005272149.4:c.1018C>G	XP_005272206.3:p.Arg340Gly
XM_011543765.2:c.1030C>G	XP_011542067.1:p.Arg344Gly
NM_005847.5:c.910C>G MANE Select	NP_005838.3:p.Arg304Gly
NM_152685.4:c.922C>G	NP_689898.2:p.Arg308Gly