Canonical Allele Identifier: CA446794033

Gene: SLC23A1

Linked Data

• MyVariant Identifiers: chr5:g.138715481G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.139379792G>A , CM000667.2:g.139379792G>A	GRCh38
NC_000005.9:g.138715481G>A , CM000667.1:g.138715481G>A	GRCh37
NC_000005.8:g.138743380G>A	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000348729.8:c.811C>T MANE Select	ENSP00000302701.4:p.Leu271=
ENST00000348729.7:c.811C>T	ENSP00000302701.4:p.Leu271=
ENST00000353963.7:c.823C>T	ENSP00000302851.5:p.Leu275=
ENST00000504513.1:c.164+164C>T
ENST00000506512.1:n.422C>T
NM_005847.4:c.811C>T	NP_005838.3:p.Leu271=
NM_152685.3:c.823C>T	NP_689898.2:p.Leu275=
XM_005272148.3:c.931C>T	XP_005272205.3:p.Leu311=
XM_005272149.3:c.919C>T	XP_005272206.3:p.Leu307=
XM_006714741.2:c.931C>T	XP_006714804.2:p.Leu311=
XM_011543765.1:c.931C>T	XP_011542067.1:p.Leu311=
XM_011543766.1:c.712C>T	XP_011542068.1:p.Leu238=
XM_011543767.1:c.616C>T	XP_011542069.1:p.Leu206=
XM_011543768.1:c.496C>T	XP_011542070.1:p.Leu166=
XM_011543769.1:c.106C>T	XP_011542071.1:p.Leu36=
XM_005272149.4:c.919C>T	XP_005272206.3:p.Leu307=
XM_011543765.2:c.931C>T	XP_011542067.1:p.Leu311=
NM_005847.5:c.811C>T MANE Select	NP_005838.3:p.Leu271=
NM_152685.4:c.823C>T	NP_689898.2:p.Leu275=