Canonical Allele Identifier: CA361139539

Gene: SLC23A1

Linked Data

• MyVariant Identifiers: chr5:g.138715401C>T (hg19) ; chr5:g.139379712C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.139379712C>T , CM000667.2:g.139379712C>T	GRCh38
NC_000005.9:g.138715401C>T , CM000667.1:g.138715401C>T	GRCh37
NC_000005.8:g.138743300C>T	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000348729.8:c.891G>A MANE Select	ENSP00000302701.4:p.Met297Ile
ENST00000348729.7:c.891G>A	ENSP00000302701.4:p.Met297Ile
ENST00000353963.7:c.903G>A	ENSP00000302851.5:p.Met301Ile
ENST00000504513.1:c.164+244G>A
ENST00000506512.1:n.502G>A
NM_005847.4:c.891G>A	NP_005838.3:p.Met297Ile
NM_152685.3:c.903G>A	NP_689898.2:p.Met301Ile
XM_005272148.3:c.1011G>A	XP_005272205.3:p.Met337Ile
XM_005272149.3:c.999G>A	XP_005272206.3:p.Met333Ile
XM_006714741.2:c.1011G>A	XP_006714804.2:p.Met337Ile
XM_011543765.1:c.1011G>A	XP_011542067.1:p.Met337Ile
XM_011543766.1:c.792G>A	XP_011542068.1:p.Met264Ile
XM_011543767.1:c.696G>A	XP_011542069.1:p.Met232Ile
XM_011543768.1:c.576G>A	XP_011542070.1:p.Met192Ile
XM_011543769.1:c.186G>A	XP_011542071.1:p.Met62Ile
XM_005272149.4:c.999G>A	XP_005272206.3:p.Met333Ile
XM_011543765.2:c.1011G>A	XP_011542067.1:p.Met337Ile
NM_005847.5:c.891G>A MANE Select	NP_005838.3:p.Met297Ile
NM_152685.4:c.903G>A	NP_689898.2:p.Met301Ile