Canonical Allele Identifier: CA361139427

Gene: SLC23A1

Linked Data

• dbSNP Id: rs1229903882
• gnomAD v2: 5-138715375-G-A
• gnomAD v4: 5-139379686-G-A
• MyVariant Identifiers: chr5:g.138715375G>A (hg19) ; chr5:g.139379686G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.139379686G>A , CM000667.2:g.139379686G>A	GRCh38
NC_000005.9:g.138715375G>A , CM000667.1:g.138715375G>A	GRCh37
NC_000005.8:g.138743274G>A	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000348729.8:c.917C>T MANE Select	ENSP00000302701.4:p.Pro306Leu
ENST00000348729.7:c.917C>T	ENSP00000302701.4:p.Pro306Leu
ENST00000353963.7:c.929C>T	ENSP00000302851.5:p.Pro310Leu
ENST00000504513.1:c.164+270C>T
ENST00000506512.1:n.528C>T
NM_005847.4:c.917C>T	NP_005838.3:p.Pro306Leu
NM_152685.3:c.929C>T	NP_689898.2:p.Pro310Leu
XM_005272148.3:c.1037C>T	XP_005272205.3:p.Pro346Leu
XM_005272149.3:c.1025C>T	XP_005272206.3:p.Pro342Leu
XM_006714741.2:c.1037C>T	XP_006714804.2:p.Pro346Leu
XM_011543765.1:c.1037C>T	XP_011542067.1:p.Pro346Leu
XM_011543766.1:c.818C>T	XP_011542068.1:p.Pro273Leu
XM_011543767.1:c.722C>T	XP_011542069.1:p.Pro241Leu
XM_011543768.1:c.602C>T	XP_011542070.1:p.Pro201Leu
XM_011543769.1:c.212C>T	XP_011542071.1:p.Pro71Leu
XM_005272149.4:c.1025C>T	XP_005272206.3:p.Pro342Leu
XM_011543765.2:c.1037C>T	XP_011542067.1:p.Pro346Leu
NM_005847.5:c.917C>T MANE Select	NP_005838.3:p.Pro306Leu
NM_152685.4:c.929C>T	NP_689898.2:p.Pro310Leu