Canonical Allele Identifier: CA446793916

Gene: SLC23A1

Linked Data

• MyVariant Identifiers: chr5:g.138715392T>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.139379703T>G , CM000667.2:g.139379703T>G	GRCh38
NC_000005.9:g.138715392T>G , CM000667.1:g.138715392T>G	GRCh37
NC_000005.8:g.138743291T>G	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000348729.8:c.900A>C MANE Select	ENSP00000302701.4:p.Ala300=
ENST00000348729.7:c.900A>C	ENSP00000302701.4:p.Ala300=
ENST00000353963.7:c.912A>C	ENSP00000302851.5:p.Ala304=
ENST00000504513.1:c.164+253A>C
ENST00000506512.1:n.511A>C
NM_005847.4:c.900A>C	NP_005838.3:p.Ala300=
NM_152685.3:c.912A>C	NP_689898.2:p.Ala304=
XM_005272148.3:c.1020A>C	XP_005272205.3:p.Ala340=
XM_005272149.3:c.1008A>C	XP_005272206.3:p.Ala336=
XM_006714741.2:c.1020A>C	XP_006714804.2:p.Ala340=
XM_011543765.1:c.1020A>C	XP_011542067.1:p.Ala340=
XM_011543766.1:c.801A>C	XP_011542068.1:p.Ala267=
XM_011543767.1:c.705A>C	XP_011542069.1:p.Ala235=
XM_011543768.1:c.585A>C	XP_011542070.1:p.Ala195=
XM_011543769.1:c.195A>C	XP_011542071.1:p.Ala65=
XM_005272149.4:c.1008A>C	XP_005272206.3:p.Ala336=
XM_011543765.2:c.1020A>C	XP_011542067.1:p.Ala340=
NM_005847.5:c.900A>C MANE Select	NP_005838.3:p.Ala300=
NM_152685.4:c.912A>C	NP_689898.2:p.Ala304=