Canonical Allele Identifier: CA361139525

Gene: SLC23A1

Linked Data

• dbSNP Id: rs1182577323
• gnomAD v2: 5-138715399-G-T
• MyVariant Identifiers: chr5:g.138715399G>T (hg19) ; chr5:g.139379710G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.139379710G>T , CM000667.2:g.139379710G>T	GRCh38
NC_000005.9:g.138715399G>T , CM000667.1:g.138715399G>T	GRCh37
NC_000005.8:g.138743298G>T	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000348729.8:c.893C>A MANE Select	ENSP00000302701.4:p.Ala298Asp
ENST00000348729.7:c.893C>A	ENSP00000302701.4:p.Ala298Asp
ENST00000353963.7:c.905C>A	ENSP00000302851.5:p.Ala302Asp
ENST00000504513.1:c.164+246C>A
ENST00000506512.1:n.504C>A
NM_005847.4:c.893C>A	NP_005838.3:p.Ala298Asp
NM_152685.3:c.905C>A	NP_689898.2:p.Ala302Asp
XM_005272148.3:c.1013C>A	XP_005272205.3:p.Ala338Asp
XM_005272149.3:c.1001C>A	XP_005272206.3:p.Ala334Asp
XM_006714741.2:c.1013C>A	XP_006714804.2:p.Ala338Asp
XM_011543765.1:c.1013C>A	XP_011542067.1:p.Ala338Asp
XM_011543766.1:c.794C>A	XP_011542068.1:p.Ala265Asp
XM_011543767.1:c.698C>A	XP_011542069.1:p.Ala233Asp
XM_011543768.1:c.578C>A	XP_011542070.1:p.Ala193Asp
XM_011543769.1:c.188C>A	XP_011542071.1:p.Ala63Asp
XM_005272149.4:c.1001C>A	XP_005272206.3:p.Ala334Asp
XM_011543765.2:c.1013C>A	XP_011542067.1:p.Ala338Asp
NM_005847.5:c.893C>A MANE Select	NP_005838.3:p.Ala298Asp
NM_152685.4:c.905C>A	NP_689898.2:p.Ala302Asp