Canonical Allele Identifier: CA361139431

Gene: SLC23A1

Linked Data

• MyVariant Identifiers: chr5:g.138715376G>T (hg19) ; chr5:g.139379687G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.139379687G>T , CM000667.2:g.139379687G>T	GRCh38
NC_000005.9:g.138715376G>T , CM000667.1:g.138715376G>T	GRCh37
NC_000005.8:g.138743275G>T	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000348729.8:c.916C>A MANE Select	ENSP00000302701.4:p.Pro306Thr
ENST00000348729.7:c.916C>A	ENSP00000302701.4:p.Pro306Thr
ENST00000353963.7:c.928C>A	ENSP00000302851.5:p.Pro310Thr
ENST00000504513.1:c.164+269C>A
ENST00000506512.1:n.527C>A
NM_005847.4:c.916C>A	NP_005838.3:p.Pro306Thr
NM_152685.3:c.928C>A	NP_689898.2:p.Pro310Thr
XM_005272148.3:c.1036C>A	XP_005272205.3:p.Pro346Thr
XM_005272149.3:c.1024C>A	XP_005272206.3:p.Pro342Thr
XM_006714741.2:c.1036C>A	XP_006714804.2:p.Pro346Thr
XM_011543765.1:c.1036C>A	XP_011542067.1:p.Pro346Thr
XM_011543766.1:c.817C>A	XP_011542068.1:p.Pro273Thr
XM_011543767.1:c.721C>A	XP_011542069.1:p.Pro241Thr
XM_011543768.1:c.601C>A	XP_011542070.1:p.Pro201Thr
XM_011543769.1:c.211C>A	XP_011542071.1:p.Pro71Thr
XM_005272149.4:c.1024C>A	XP_005272206.3:p.Pro342Thr
XM_011543765.2:c.1036C>A	XP_011542067.1:p.Pro346Thr
NM_005847.5:c.916C>A MANE Select	NP_005838.3:p.Pro306Thr
NM_152685.4:c.928C>A	NP_689898.2:p.Pro310Thr