Canonical Allele Identifier: CA361139530

Gene: SLC23A1

Linked Data

• MyVariant Identifiers: chr5:g.138715400C>G (hg19) ; chr5:g.139379711C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.139379711C>G , CM000667.2:g.139379711C>G	GRCh38
NC_000005.9:g.138715400C>G , CM000667.1:g.138715400C>G	GRCh37
NC_000005.8:g.138743299C>G	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000348729.8:c.892G>C MANE Select	ENSP00000302701.4:p.Ala298Pro
ENST00000348729.7:c.892G>C	ENSP00000302701.4:p.Ala298Pro
ENST00000353963.7:c.904G>C	ENSP00000302851.5:p.Ala302Pro
ENST00000504513.1:c.164+245G>C
ENST00000506512.1:n.503G>C
NM_005847.4:c.892G>C	NP_005838.3:p.Ala298Pro
NM_152685.3:c.904G>C	NP_689898.2:p.Ala302Pro
XM_005272148.3:c.1012G>C	XP_005272205.3:p.Ala338Pro
XM_005272149.3:c.1000G>C	XP_005272206.3:p.Ala334Pro
XM_006714741.2:c.1012G>C	XP_006714804.2:p.Ala338Pro
XM_011543765.1:c.1012G>C	XP_011542067.1:p.Ala338Pro
XM_011543766.1:c.793G>C	XP_011542068.1:p.Ala265Pro
XM_011543767.1:c.697G>C	XP_011542069.1:p.Ala233Pro
XM_011543768.1:c.577G>C	XP_011542070.1:p.Ala193Pro
XM_011543769.1:c.187G>C	XP_011542071.1:p.Ala63Pro
XM_005272149.4:c.1000G>C	XP_005272206.3:p.Ala334Pro
XM_011543765.2:c.1012G>C	XP_011542067.1:p.Ala338Pro
NM_005847.5:c.892G>C MANE Select	NP_005838.3:p.Ala298Pro
NM_152685.4:c.904G>C	NP_689898.2:p.Ala302Pro