Canonical Allele Identifier: CA361140049

Gene: SLC23A1

Linked Data

• MyVariant Identifiers: chr5:g.138715508T>A (hg19) ; chr5:g.139379819T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.139379819T>A , CM000667.2:g.139379819T>A	GRCh38
NC_000005.9:g.138715508T>A , CM000667.1:g.138715508T>A	GRCh37
NC_000005.8:g.138743407T>A	NCBI36

Transcript Alleles

HGVS	Amino-acid change
ENST00000348729.8:c.784A>T MANE Select	ENSP00000302701.4:p.Met262Leu
ENST00000348729.7:c.784A>T	ENSP00000302701.4:p.Met262Leu
ENST00000353963.7:c.796A>T	ENSP00000302851.5:p.Met266Leu
ENST00000504513.1:c.164+137A>T
ENST00000506512.1:n.395A>T
NM_005847.4:c.784A>T	NP_005838.3:p.Met262Leu
NM_152685.3:c.796A>T	NP_689898.2:p.Met266Leu
XM_005272148.3:c.904A>T	XP_005272205.3:p.Met302Leu
XM_005272149.3:c.892A>T	XP_005272206.3:p.Met298Leu
XM_006714741.2:c.904A>T	XP_006714804.2:p.Met302Leu
XM_011543765.1:c.904A>T	XP_011542067.1:p.Met302Leu
XM_011543766.1:c.685A>T	XP_011542068.1:p.Met229Leu
XM_011543767.1:c.589A>T	XP_011542069.1:p.Met197Leu
XM_011543768.1:c.469A>T	XP_011542070.1:p.Met157Leu
XM_011543769.1:c.79A>T	XP_011542071.1:p.Met27Leu
XM_005272149.4:c.892A>T	XP_005272206.3:p.Met298Leu
XM_011543765.2:c.904A>T	XP_011542067.1:p.Met302Leu
NM_005847.5:c.784A>T MANE Select	NP_005838.3:p.Met262Leu
NM_152685.4:c.796A>T	NP_689898.2:p.Met266Leu