Canonical Allele Identifier: CA361139482

Gene: SLC23A1

Linked Data

• MyVariant Identifiers: chr5:g.138715390G>T (hg19) ; chr5:g.139379701G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.139379701G>T , CM000667.2:g.139379701G>T	GRCh38
NC_000005.9:g.138715390G>T , CM000667.1:g.138715390G>T	GRCh37
NC_000005.8:g.138743289G>T	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000348729.8:c.902C>A MANE Select	ENSP00000302701.4:p.Pro301His
ENST00000348729.7:c.902C>A	ENSP00000302701.4:p.Pro301His
ENST00000353963.7:c.914C>A	ENSP00000302851.5:p.Pro305His
ENST00000504513.1:c.164+255C>A
ENST00000506512.1:n.513C>A
NM_005847.4:c.902C>A	NP_005838.3:p.Pro301His
NM_152685.3:c.914C>A	NP_689898.2:p.Pro305His
XM_005272148.3:c.1022C>A	XP_005272205.3:p.Pro341His
XM_005272149.3:c.1010C>A	XP_005272206.3:p.Pro337His
XM_006714741.2:c.1022C>A	XP_006714804.2:p.Pro341His
XM_011543765.1:c.1022C>A	XP_011542067.1:p.Pro341His
XM_011543766.1:c.803C>A	XP_011542068.1:p.Pro268His
XM_011543767.1:c.707C>A	XP_011542069.1:p.Pro236His
XM_011543768.1:c.587C>A	XP_011542070.1:p.Pro196His
XM_011543769.1:c.197C>A	XP_011542071.1:p.Pro66His
XM_005272149.4:c.1010C>A	XP_005272206.3:p.Pro337His
XM_011543765.2:c.1022C>A	XP_011542067.1:p.Pro341His
NM_005847.5:c.902C>A MANE Select	NP_005838.3:p.Pro301His
NM_152685.4:c.914C>A	NP_689898.2:p.Pro305His