Canonical Allele Identifier: CA361139997

Gene: SLC23A1

Linked Data

• dbSNP Id: rs1192150936
• gnomAD v3: 5-139379812-A-G
• gnomAD v4: 5-139379812-A-G
• MyVariant Identifiers: chr5:g.138715501A>G (hg19) ; chr5:g.139379812A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.139379812A>G , CM000667.2:g.139379812A>G	GRCh38
NC_000005.9:g.138715501A>G , CM000667.1:g.138715501A>G	GRCh37
NC_000005.8:g.138743400A>G	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000348729.8:c.791T>C MANE Select	ENSP00000302701.4:p.Val264Ala
ENST00000348729.7:c.791T>C	ENSP00000302701.4:p.Val264Ala
ENST00000353963.7:c.803T>C	ENSP00000302851.5:p.Val268Ala
ENST00000504513.1:c.164+144T>C
ENST00000506512.1:n.402T>C
NM_005847.4:c.791T>C	NP_005838.3:p.Val264Ala
NM_152685.3:c.803T>C	NP_689898.2:p.Val268Ala
XM_005272148.3:c.911T>C	XP_005272205.3:p.Val304Ala
XM_005272149.3:c.899T>C	XP_005272206.3:p.Val300Ala
XM_006714741.2:c.911T>C	XP_006714804.2:p.Val304Ala
XM_011543765.1:c.911T>C	XP_011542067.1:p.Val304Ala
XM_011543766.1:c.692T>C	XP_011542068.1:p.Val231Ala
XM_011543767.1:c.596T>C	XP_011542069.1:p.Val199Ala
XM_011543768.1:c.476T>C	XP_011542070.1:p.Val159Ala
XM_011543769.1:c.86T>C	XP_011542071.1:p.Val29Ala
XM_005272149.4:c.899T>C	XP_005272206.3:p.Val300Ala
XM_011543765.2:c.911T>C	XP_011542067.1:p.Val304Ala
NM_005847.5:c.791T>C MANE Select	NP_005838.3:p.Val264Ala
NM_152685.4:c.803T>C	NP_689898.2:p.Val268Ala