Canonical Allele Identifier: CA128242528

Gene: SLC23A1

Linked Data

• dbSNP Id: rs915786261
• gnomAD v3: 5-139379817-C-T
• gnomAD v4: 5-139379817-C-T
• MyVariant Identifiers: chr5:g.138715506C>T (hg19) ; chr5:g.139379817C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.139379817C>T , CM000667.2:g.139379817C>T	GRCh38
NC_000005.9:g.138715506C>T , CM000667.1:g.138715506C>T	GRCh37
NC_000005.8:g.138743405C>T	NCBI36

Transcript Alleles

HGVS	Amino-acid change
ENST00000348729.8:c.786G>A MANE Select	ENSP00000302701.4:p.Met262Ile
ENST00000348729.7:c.786G>A	ENSP00000302701.4:p.Met262Ile
ENST00000353963.7:c.798G>A	ENSP00000302851.5:p.Met266Ile
ENST00000504513.1:c.164+139G>A
ENST00000506512.1:n.397G>A
NM_005847.4:c.786G>A	NP_005838.3:p.Met262Ile
NM_152685.3:c.798G>A	NP_689898.2:p.Met266Ile
XM_005272148.3:c.906G>A	XP_005272205.3:p.Met302Ile
XM_005272149.3:c.894G>A	XP_005272206.3:p.Met298Ile
XM_006714741.2:c.906G>A	XP_006714804.2:p.Met302Ile
XM_011543765.1:c.906G>A	XP_011542067.1:p.Met302Ile
XM_011543766.1:c.687G>A	XP_011542068.1:p.Met229Ile
XM_011543767.1:c.591G>A	XP_011542069.1:p.Met197Ile
XM_011543768.1:c.471G>A	XP_011542070.1:p.Met157Ile
XM_011543769.1:c.81G>A	XP_011542071.1:p.Met27Ile
XM_005272149.4:c.894G>A	XP_005272206.3:p.Met298Ile
XM_011543765.2:c.906G>A	XP_011542067.1:p.Met302Ile
NM_005847.5:c.786G>A MANE Select	NP_005838.3:p.Met262Ile
NM_152685.4:c.798G>A	NP_689898.2:p.Met266Ile