Canonical Allele Identifier: CA361139590

Gene: SLC23A1

Linked Data

• MyVariant Identifiers: chr5:g.138715409C>G (hg19) ; chr5:g.139379720C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.139379720C>G , CM000667.2:g.139379720C>G	GRCh38
NC_000005.9:g.138715409C>G , CM000667.1:g.138715409C>G	GRCh37
NC_000005.8:g.138743308C>G	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000348729.8:c.883G>C MANE Select	ENSP00000302701.4:p.Asp295His
ENST00000348729.7:c.883G>C	ENSP00000302701.4:p.Asp295His
ENST00000353963.7:c.895G>C	ENSP00000302851.5:p.Asp299His
ENST00000504513.1:c.164+236G>C
ENST00000506512.1:n.494G>C
NM_005847.4:c.883G>C	NP_005838.3:p.Asp295His
NM_152685.3:c.895G>C	NP_689898.2:p.Asp299His
XM_005272148.3:c.1003G>C	XP_005272205.3:p.Asp335His
XM_005272149.3:c.991G>C	XP_005272206.3:p.Asp331His
XM_006714741.2:c.1003G>C	XP_006714804.2:p.Asp335His
XM_011543765.1:c.1003G>C	XP_011542067.1:p.Asp335His
XM_011543766.1:c.784G>C	XP_011542068.1:p.Asp262His
XM_011543767.1:c.688G>C	XP_011542069.1:p.Asp230His
XM_011543768.1:c.568G>C	XP_011542070.1:p.Asp190His
XM_011543769.1:c.178G>C	XP_011542071.1:p.Asp60His
XM_005272149.4:c.991G>C	XP_005272206.3:p.Asp331His
XM_011543765.2:c.1003G>C	XP_011542067.1:p.Asp335His
NM_005847.5:c.883G>C MANE Select	NP_005838.3:p.Asp295His
NM_152685.4:c.895G>C	NP_689898.2:p.Asp299His