Canonical Allele Identifier: CA3434027

Gene: SLC23A1

Linked Data

• dbSNP Id: rs759016045
• ExAC: 5:138715394 C / T
• gnomAD v2: 5-138715394-C-T
• MyVariant Identifiers: chr5:g.138715394C>T (hg19) ; chr5:g.139379705C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.139379705C>T , CM000667.2:g.139379705C>T	GRCh38
NC_000005.9:g.138715394C>T , CM000667.1:g.138715394C>T	GRCh37
NC_000005.8:g.138743293C>T	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000348729.8:c.898G>A MANE Select	ENSP00000302701.4:p.Ala300Thr
ENST00000348729.7:c.898G>A	ENSP00000302701.4:p.Ala300Thr
ENST00000353963.7:c.910G>A	ENSP00000302851.5:p.Ala304Thr
ENST00000504513.1:c.164+251G>A
ENST00000506512.1:n.509G>A
NM_005847.4:c.898G>A	NP_005838.3:p.Ala300Thr
NM_152685.3:c.910G>A	NP_689898.2:p.Ala304Thr
XM_005272148.3:c.1018G>A	XP_005272205.3:p.Ala340Thr
XM_005272149.3:c.1006G>A	XP_005272206.3:p.Ala336Thr
XM_006714741.2:c.1018G>A	XP_006714804.2:p.Ala340Thr
XM_011543765.1:c.1018G>A	XP_011542067.1:p.Ala340Thr
XM_011543766.1:c.799G>A	XP_011542068.1:p.Ala267Thr
XM_011543767.1:c.703G>A	XP_011542069.1:p.Ala235Thr
XM_011543768.1:c.583G>A	XP_011542070.1:p.Ala195Thr
XM_011543769.1:c.193G>A	XP_011542071.1:p.Ala65Thr
XM_005272149.4:c.1006G>A	XP_005272206.3:p.Ala336Thr
XM_011543765.2:c.1018G>A	XP_011542067.1:p.Ala340Thr
NM_005847.5:c.898G>A MANE Select	NP_005838.3:p.Ala300Thr
NM_152685.4:c.910G>A	NP_689898.2:p.Ala304Thr