Canonical Allele Identifier: CA361139432

Gene: SLC23A1

Linked Data

• dbSNP Id: rs1758138117
• gnomAD v3: 5-139379688-G-C
• gnomAD v4: 5-139379688-G-C
• MyVariant Identifiers: chr5:g.138715377G>C (hg19) ; chr5:g.139379688G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.139379688G>C , CM000667.2:g.139379688G>C	GRCh38
NC_000005.9:g.138715377G>C , CM000667.1:g.138715377G>C	GRCh37
NC_000005.8:g.138743276G>C	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000348729.8:c.915C>G MANE Select	ENSP00000302701.4:p.Ile305Met
ENST00000348729.7:c.915C>G	ENSP00000302701.4:p.Ile305Met
ENST00000353963.7:c.927C>G	ENSP00000302851.5:p.Ile309Met
ENST00000504513.1:c.164+268C>G
ENST00000506512.1:n.526C>G
NM_005847.4:c.915C>G	NP_005838.3:p.Ile305Met
NM_152685.3:c.927C>G	NP_689898.2:p.Ile309Met
XM_005272148.3:c.1035C>G	XP_005272205.3:p.Ile345Met
XM_005272149.3:c.1023C>G	XP_005272206.3:p.Ile341Met
XM_006714741.2:c.1035C>G	XP_006714804.2:p.Ile345Met
XM_011543765.1:c.1035C>G	XP_011542067.1:p.Ile345Met
XM_011543766.1:c.816C>G	XP_011542068.1:p.Ile272Met
XM_011543767.1:c.720C>G	XP_011542069.1:p.Ile240Met
XM_011543768.1:c.600C>G	XP_011542070.1:p.Ile200Met
XM_011543769.1:c.210C>G	XP_011542071.1:p.Ile70Met
XM_005272149.4:c.1023C>G	XP_005272206.3:p.Ile341Met
XM_011543765.2:c.1035C>G	XP_011542067.1:p.Ile345Met
NM_005847.5:c.915C>G MANE Select	NP_005838.3:p.Ile305Met
NM_152685.4:c.927C>G	NP_689898.2:p.Ile309Met