Canonical Allele Identifier: CA361139414

Gene: SLC23A1

Linked Data

• gnomAD v4: 5-139379680-G-A
• MyVariant Identifiers: chr5:g.138715369G>A (hg19) ; chr5:g.139379680G>A (hg38)

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000348729.8:c.923C>T MANE Select	ENSP00000302701.4:p.Pro308Leu
ENST00000348729.7:c.923C>T	ENSP00000302701.4:p.Pro308Leu
ENST00000353963.7:c.935C>T	ENSP00000302851.5:p.Pro312Leu
ENST00000504513.1:c.164+276C>T
ENST00000506512.1:n.534C>T
NM_005847.4:c.923C>T	NP_005838.3:p.Pro308Leu
NM_152685.3:c.935C>T	NP_689898.2:p.Pro312Leu
XM_005272148.3:c.1043C>T	XP_005272205.3:p.Pro348Leu
XM_005272149.3:c.1031C>T	XP_005272206.3:p.Pro344Leu
XM_006714741.2:c.1043C>T	XP_006714804.2:p.Pro348Leu
XM_011543765.1:c.1043C>T	XP_011542067.1:p.Pro348Leu
XM_011543766.1:c.824C>T	XP_011542068.1:p.Pro275Leu
XM_011543767.1:c.728C>T	XP_011542069.1:p.Pro243Leu
XM_011543768.1:c.608C>T	XP_011542070.1:p.Pro203Leu
XM_011543769.1:c.218C>T	XP_011542071.1:p.Pro73Leu
XM_005272149.4:c.1031C>T	XP_005272206.3:p.Pro344Leu
XM_011543765.2:c.1043C>T	XP_011542067.1:p.Pro348Leu
NM_005847.5:c.923C>T MANE Select	NP_005838.3:p.Pro308Leu
NM_152685.4:c.935C>T	NP_689898.2:p.Pro312Leu