Canonical Allele Identifier: CA361139417

Gene: SLC23A1

Linked Data

• gnomAD v4: 5-139379681-G-C
• MyVariant Identifiers: chr5:g.138715370G>C (hg19) ; chr5:g.139379681G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.139379681G>C , CM000667.2:g.139379681G>C	GRCh38
NC_000005.9:g.138715370G>C , CM000667.1:g.138715370G>C	GRCh37
NC_000005.8:g.138743269G>C	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000348729.8:c.922C>G MANE Select	ENSP00000302701.4:p.Pro308Ala
ENST00000348729.7:c.922C>G	ENSP00000302701.4:p.Pro308Ala
ENST00000353963.7:c.934C>G	ENSP00000302851.5:p.Pro312Ala
ENST00000504513.1:c.164+275C>G
ENST00000506512.1:n.533C>G
NM_005847.4:c.922C>G	NP_005838.3:p.Pro308Ala
NM_152685.3:c.934C>G	NP_689898.2:p.Pro312Ala
XM_005272148.3:c.1042C>G	XP_005272205.3:p.Pro348Ala
XM_005272149.3:c.1030C>G	XP_005272206.3:p.Pro344Ala
XM_006714741.2:c.1042C>G	XP_006714804.2:p.Pro348Ala
XM_011543765.1:c.1042C>G	XP_011542067.1:p.Pro348Ala
XM_011543766.1:c.823C>G	XP_011542068.1:p.Pro275Ala
XM_011543767.1:c.727C>G	XP_011542069.1:p.Pro243Ala
XM_011543768.1:c.607C>G	XP_011542070.1:p.Pro203Ala
XM_011543769.1:c.217C>G	XP_011542071.1:p.Pro73Ala
XM_005272149.4:c.1030C>G	XP_005272206.3:p.Pro344Ala
XM_011543765.2:c.1042C>G	XP_011542067.1:p.Pro348Ala
NM_005847.5:c.922C>G MANE Select	NP_005838.3:p.Pro308Ala
NM_152685.4:c.934C>G	NP_689898.2:p.Pro312Ala