Canonical Allele Identifier: CA446793883

Gene: SLC23A1

Linked Data

• MyVariant Identifiers: chr5:g.138715374G>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.139379685G>C , CM000667.2:g.139379685G>C	GRCh38
NC_000005.9:g.138715374G>C , CM000667.1:g.138715374G>C	GRCh37
NC_000005.8:g.138743273G>C	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000348729.8:c.918C>G MANE Select	ENSP00000302701.4:p.Pro306=
ENST00000348729.7:c.918C>G	ENSP00000302701.4:p.Pro306=
ENST00000353963.7:c.930C>G	ENSP00000302851.5:p.Pro310=
ENST00000504513.1:c.164+271C>G
ENST00000506512.1:n.529C>G
NM_005847.4:c.918C>G	NP_005838.3:p.Pro306=
NM_152685.3:c.930C>G	NP_689898.2:p.Pro310=
XM_005272148.3:c.1038C>G	XP_005272205.3:p.Pro346=
XM_005272149.3:c.1026C>G	XP_005272206.3:p.Pro342=
XM_006714741.2:c.1038C>G	XP_006714804.2:p.Pro346=
XM_011543765.1:c.1038C>G	XP_011542067.1:p.Pro346=
XM_011543766.1:c.819C>G	XP_011542068.1:p.Pro273=
XM_011543767.1:c.723C>G	XP_011542069.1:p.Pro241=
XM_011543768.1:c.603C>G	XP_011542070.1:p.Pro201=
XM_011543769.1:c.213C>G	XP_011542071.1:p.Pro71=
XM_005272149.4:c.1026C>G	XP_005272206.3:p.Pro342=
XM_011543765.2:c.1038C>G	XP_011542067.1:p.Pro346=
NM_005847.5:c.918C>G MANE Select	NP_005838.3:p.Pro306=
NM_152685.4:c.930C>G	NP_689898.2:p.Pro310=