Canonical Allele Identifier: CA361139416

Gene: SLC23A1

Linked Data

• dbSNP Id: rs1387784357
• gnomAD v2: 5-138715369-G-T
• gnomAD v4: 5-139379680-G-T
• MyVariant Identifiers: chr5:g.138715369G>T (hg19) ; chr5:g.139379680G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.139379680G>T , CM000667.2:g.139379680G>T	GRCh38
NC_000005.9:g.138715369G>T , CM000667.1:g.138715369G>T	GRCh37
NC_000005.8:g.138743268G>T	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000348729.8:c.923C>A MANE Select	ENSP00000302701.4:p.Pro308His
ENST00000348729.7:c.923C>A	ENSP00000302701.4:p.Pro308His
ENST00000353963.7:c.935C>A	ENSP00000302851.5:p.Pro312His
ENST00000504513.1:c.164+276C>A
ENST00000506512.1:n.534C>A
NM_005847.4:c.923C>A	NP_005838.3:p.Pro308His
NM_152685.3:c.935C>A	NP_689898.2:p.Pro312His
XM_005272148.3:c.1043C>A	XP_005272205.3:p.Pro348His
XM_005272149.3:c.1031C>A	XP_005272206.3:p.Pro344His
XM_006714741.2:c.1043C>A	XP_006714804.2:p.Pro348His
XM_011543765.1:c.1043C>A	XP_011542067.1:p.Pro348His
XM_011543766.1:c.824C>A	XP_011542068.1:p.Pro275His
XM_011543767.1:c.728C>A	XP_011542069.1:p.Pro243His
XM_011543768.1:c.608C>A	XP_011542070.1:p.Pro203His
XM_011543769.1:c.218C>A	XP_011542071.1:p.Pro73His
XM_005272149.4:c.1031C>A	XP_005272206.3:p.Pro344His
XM_011543765.2:c.1043C>A	XP_011542067.1:p.Pro348His
NM_005847.5:c.923C>A MANE Select	NP_005838.3:p.Pro308His
NM_152685.4:c.935C>A	NP_689898.2:p.Pro312His