Canonical Allele Identifier: CA361139553

Gene: SLC23A1

Linked Data

• MyVariant Identifiers: chr5:g.138715403T>A (hg19) ; chr5:g.139379714T>A (hg38)

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000348729.8:c.889A>T MANE Select	ENSP00000302701.4:p.Met297Leu
ENST00000348729.7:c.889A>T	ENSP00000302701.4:p.Met297Leu
ENST00000353963.7:c.901A>T	ENSP00000302851.5:p.Met301Leu
ENST00000504513.1:c.164+242A>T
ENST00000506512.1:n.500A>T
NM_005847.4:c.889A>T	NP_005838.3:p.Met297Leu
NM_152685.3:c.901A>T	NP_689898.2:p.Met301Leu
XM_005272148.3:c.1009A>T	XP_005272205.3:p.Met337Leu
XM_005272149.3:c.997A>T	XP_005272206.3:p.Met333Leu
XM_006714741.2:c.1009A>T	XP_006714804.2:p.Met337Leu
XM_011543765.1:c.1009A>T	XP_011542067.1:p.Met337Leu
XM_011543766.1:c.790A>T	XP_011542068.1:p.Met264Leu
XM_011543767.1:c.694A>T	XP_011542069.1:p.Met232Leu
XM_011543768.1:c.574A>T	XP_011542070.1:p.Met192Leu
XM_011543769.1:c.184A>T	XP_011542071.1:p.Met62Leu
XM_005272149.4:c.997A>T	XP_005272206.3:p.Met333Leu
XM_011543765.2:c.1009A>T	XP_011542067.1:p.Met337Leu
NM_005847.5:c.889A>T MANE Select	NP_005838.3:p.Met297Leu
NM_152685.4:c.901A>T	NP_689898.2:p.Met301Leu