Canonical Allele Identifier: CA361140004

Gene: SLC23A1

Linked Data

• dbSNP Id: rs33972313
• MyVariant Identifiers: chr5:g.138715502C>G (hg19) ; chr5:g.139379813C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.139379813C>G , CM000667.2:g.139379813C>G	GRCh38
NC_000005.9:g.138715502C>G , CM000667.1:g.138715502C>G	GRCh37
NC_000005.8:g.138743401C>G	NCBI36

Transcript Alleles

HGVS	Amino-acid change
ENST00000348729.8:c.790G>C MANE Select	ENSP00000302701.4:p.Val264Leu
ENST00000348729.7:c.790G>C	ENSP00000302701.4:p.Val264Leu
ENST00000353963.7:c.802G>C	ENSP00000302851.5:p.Val268Leu
ENST00000504513.1:c.164+143G>C
ENST00000506512.1:n.401G>C
NM_005847.4:c.790G>C	NP_005838.3:p.Val264Leu
NM_152685.3:c.802G>C	NP_689898.2:p.Val268Leu
XM_005272148.3:c.910G>C	XP_005272205.3:p.Val304Leu
XM_005272149.3:c.898G>C	XP_005272206.3:p.Val300Leu
XM_006714741.2:c.910G>C	XP_006714804.2:p.Val304Leu
XM_011543765.1:c.910G>C	XP_011542067.1:p.Val304Leu
XM_011543766.1:c.691G>C	XP_011542068.1:p.Val231Leu
XM_011543767.1:c.595G>C	XP_011542069.1:p.Val199Leu
XM_011543768.1:c.475G>C	XP_011542070.1:p.Val159Leu
XM_011543769.1:c.85G>C	XP_011542071.1:p.Val29Leu
XM_005272149.4:c.898G>C	XP_005272206.3:p.Val300Leu
XM_011543765.2:c.910G>C	XP_011542067.1:p.Val304Leu
NM_005847.5:c.790G>C MANE Select	NP_005838.3:p.Val264Leu
NM_152685.4:c.802G>C	NP_689898.2:p.Val268Leu