Canonical Allele Identifier: CA361139441

Gene: SLC23A1

Linked Data

• dbSNP Id: rs1266638544
• gnomAD v2: 5-138715382-G-A
• gnomAD v3: 5-139379693-G-A
• gnomAD v4: 5-139379693-G-A
• MyVariant Identifiers: chr5:g.138715382G>A (hg19) ; chr5:g.139379693G>A (hg38)

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000348729.8:c.910C>T MANE Select	ENSP00000302701.4:p.Arg304Cys
ENST00000348729.7:c.910C>T	ENSP00000302701.4:p.Arg304Cys
ENST00000353963.7:c.922C>T	ENSP00000302851.5:p.Arg308Cys
ENST00000504513.1:c.164+263C>T
ENST00000506512.1:n.521C>T
NM_005847.4:c.910C>T	NP_005838.3:p.Arg304Cys
NM_152685.3:c.922C>T	NP_689898.2:p.Arg308Cys
XM_005272148.3:c.1030C>T	XP_005272205.3:p.Arg344Cys
XM_005272149.3:c.1018C>T	XP_005272206.3:p.Arg340Cys
XM_006714741.2:c.1030C>T	XP_006714804.2:p.Arg344Cys
XM_011543765.1:c.1030C>T	XP_011542067.1:p.Arg344Cys
XM_011543766.1:c.811C>T	XP_011542068.1:p.Arg271Cys
XM_011543767.1:c.715C>T	XP_011542069.1:p.Arg239Cys
XM_011543768.1:c.595C>T	XP_011542070.1:p.Arg199Cys
XM_011543769.1:c.205C>T	XP_011542071.1:p.Arg69Cys
XM_005272149.4:c.1018C>T	XP_005272206.3:p.Arg340Cys
XM_011543765.2:c.1030C>T	XP_011542067.1:p.Arg344Cys
NM_005847.5:c.910C>T MANE Select	NP_005838.3:p.Arg304Cys
NM_152685.4:c.922C>T	NP_689898.2:p.Arg308Cys