Canonical Allele Identifier: CA361139593

Gene: SLC23A1

Linked Data

• MyVariant Identifiers: chr5:g.138715411C>G (hg19) ; chr5:g.139379722C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.139379722C>G , CM000667.2:g.139379722C>G	GRCh38
NC_000005.9:g.138715411C>G , CM000667.1:g.138715411C>G	GRCh37
NC_000005.8:g.138743310C>G	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000348729.8:c.881G>C MANE Select	ENSP00000302701.4:p.Gly294Ala
ENST00000348729.7:c.881G>C	ENSP00000302701.4:p.Gly294Ala
ENST00000353963.7:c.893G>C	ENSP00000302851.5:p.Gly298Ala
ENST00000504513.1:c.164+234G>C
ENST00000506512.1:n.492G>C
NM_005847.4:c.881G>C	NP_005838.3:p.Gly294Ala
NM_152685.3:c.893G>C	NP_689898.2:p.Gly298Ala
XM_005272148.3:c.1001G>C	XP_005272205.3:p.Gly334Ala
XM_005272149.3:c.989G>C	XP_005272206.3:p.Gly330Ala
XM_006714741.2:c.1001G>C	XP_006714804.2:p.Gly334Ala
XM_011543765.1:c.1001G>C	XP_011542067.1:p.Gly334Ala
XM_011543766.1:c.782G>C	XP_011542068.1:p.Gly261Ala
XM_011543767.1:c.686G>C	XP_011542069.1:p.Gly229Ala
XM_011543768.1:c.566G>C	XP_011542070.1:p.Gly189Ala
XM_011543769.1:c.176G>C	XP_011542071.1:p.Gly59Ala
XM_005272149.4:c.989G>C	XP_005272206.3:p.Gly330Ala
XM_011543765.2:c.1001G>C	XP_011542067.1:p.Gly334Ala
NM_005847.5:c.881G>C MANE Select	NP_005838.3:p.Gly294Ala
NM_152685.4:c.893G>C	NP_689898.2:p.Gly298Ala