Canonical Allele Identifier: CA361139486

Gene: SLC23A1

Linked Data

• MyVariant Identifiers: chr5:g.138715391G>T (hg19) ; chr5:g.139379702G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.139379702G>T , CM000667.2:g.139379702G>T	GRCh38
NC_000005.9:g.138715391G>T , CM000667.1:g.138715391G>T	GRCh37
NC_000005.8:g.138743290G>T	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000348729.8:c.901C>A MANE Select	ENSP00000302701.4:p.Pro301Thr
ENST00000348729.7:c.901C>A	ENSP00000302701.4:p.Pro301Thr
ENST00000353963.7:c.913C>A	ENSP00000302851.5:p.Pro305Thr
ENST00000504513.1:c.164+254C>A
ENST00000506512.1:n.512C>A
NM_005847.4:c.901C>A	NP_005838.3:p.Pro301Thr
NM_152685.3:c.913C>A	NP_689898.2:p.Pro305Thr
XM_005272148.3:c.1021C>A	XP_005272205.3:p.Pro341Thr
XM_005272149.3:c.1009C>A	XP_005272206.3:p.Pro337Thr
XM_006714741.2:c.1021C>A	XP_006714804.2:p.Pro341Thr
XM_011543765.1:c.1021C>A	XP_011542067.1:p.Pro341Thr
XM_011543766.1:c.802C>A	XP_011542068.1:p.Pro268Thr
XM_011543767.1:c.706C>A	XP_011542069.1:p.Pro236Thr
XM_011543768.1:c.586C>A	XP_011542070.1:p.Pro196Thr
XM_011543769.1:c.196C>A	XP_011542071.1:p.Pro66Thr
XM_005272149.4:c.1009C>A	XP_005272206.3:p.Pro337Thr
XM_011543765.2:c.1021C>A	XP_011542067.1:p.Pro341Thr
NM_005847.5:c.901C>A MANE Select	NP_005838.3:p.Pro301Thr
NM_152685.4:c.913C>A	NP_689898.2:p.Pro305Thr