Canonical Allele Identifier: CA361139495

Gene: SLC23A1

Linked Data

• dbSNP Id: rs750940782
• gnomAD v4: 5-139379704-G-T
• MyVariant Identifiers: chr5:g.138715393G>T (hg19) ; chr5:g.139379704G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.139379704G>T , CM000667.2:g.139379704G>T	GRCh38
NC_000005.9:g.138715393G>T , CM000667.1:g.138715393G>T	GRCh37
NC_000005.8:g.138743292G>T	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000348729.8:c.899C>A MANE Select	ENSP00000302701.4:p.Ala300Glu
ENST00000348729.7:c.899C>A	ENSP00000302701.4:p.Ala300Glu
ENST00000353963.7:c.911C>A	ENSP00000302851.5:p.Ala304Glu
ENST00000504513.1:c.164+252C>A
ENST00000506512.1:n.510C>A
NM_005847.4:c.899C>A	NP_005838.3:p.Ala300Glu
NM_152685.3:c.911C>A	NP_689898.2:p.Ala304Glu
XM_005272148.3:c.1019C>A	XP_005272205.3:p.Ala340Glu
XM_005272149.3:c.1007C>A	XP_005272206.3:p.Ala336Glu
XM_006714741.2:c.1019C>A	XP_006714804.2:p.Ala340Glu
XM_011543765.1:c.1019C>A	XP_011542067.1:p.Ala340Glu
XM_011543766.1:c.800C>A	XP_011542068.1:p.Ala267Glu
XM_011543767.1:c.704C>A	XP_011542069.1:p.Ala235Glu
XM_011543768.1:c.584C>A	XP_011542070.1:p.Ala195Glu
XM_011543769.1:c.194C>A	XP_011542071.1:p.Ala65Glu
XM_005272149.4:c.1007C>A	XP_005272206.3:p.Ala336Glu
XM_011543765.2:c.1019C>A	XP_011542067.1:p.Ala340Glu
NM_005847.5:c.899C>A MANE Select	NP_005838.3:p.Ala300Glu
NM_152685.4:c.911C>A	NP_689898.2:p.Ala304Glu