Canonical Allele Identifier: CA361139550

Gene: SLC23A1

Linked Data

• gnomAD v4: 5-139379714-T-C
• MyVariant Identifiers: chr5:g.138715403T>C (hg19) ; chr5:g.139379714T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.139379714T>C , CM000667.2:g.139379714T>C	GRCh38
NC_000005.9:g.138715403T>C , CM000667.1:g.138715403T>C	GRCh37
NC_000005.8:g.138743302T>C	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000348729.8:c.889A>G MANE Select	ENSP00000302701.4:p.Met297Val
ENST00000348729.7:c.889A>G	ENSP00000302701.4:p.Met297Val
ENST00000353963.7:c.901A>G	ENSP00000302851.5:p.Met301Val
ENST00000504513.1:c.164+242A>G
ENST00000506512.1:n.500A>G
NM_005847.4:c.889A>G	NP_005838.3:p.Met297Val
NM_152685.3:c.901A>G	NP_689898.2:p.Met301Val
XM_005272148.3:c.1009A>G	XP_005272205.3:p.Met337Val
XM_005272149.3:c.997A>G	XP_005272206.3:p.Met333Val
XM_006714741.2:c.1009A>G	XP_006714804.2:p.Met337Val
XM_011543765.1:c.1009A>G	XP_011542067.1:p.Met337Val
XM_011543766.1:c.790A>G	XP_011542068.1:p.Met264Val
XM_011543767.1:c.694A>G	XP_011542069.1:p.Met232Val
XM_011543768.1:c.574A>G	XP_011542070.1:p.Met192Val
XM_011543769.1:c.184A>G	XP_011542071.1:p.Met62Val
XM_005272149.4:c.997A>G	XP_005272206.3:p.Met333Val
XM_011543765.2:c.1009A>G	XP_011542067.1:p.Met337Val
NM_005847.5:c.889A>G MANE Select	NP_005838.3:p.Met297Val
NM_152685.4:c.901A>G	NP_689898.2:p.Met301Val