Canonical Allele Identifier: CA446794075

Gene: SLC23A1

Linked Data

• MyVariant Identifiers: chr5:g.138715515C>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.139379826C>A , CM000667.2:g.139379826C>A	GRCh38
NC_000005.9:g.138715515C>A , CM000667.1:g.138715515C>A	GRCh37
NC_000005.8:g.138743414C>A	NCBI36

Transcript Alleles

HGVS	Amino-acid change
ENST00000348729.8:c.777G>T MANE Select	ENSP00000302701.4:p.Leu259=
ENST00000348729.7:c.777G>T	ENSP00000302701.4:p.Leu259=
ENST00000353963.7:c.789G>T	ENSP00000302851.5:p.Leu263=
ENST00000504513.1:c.164+130G>T
ENST00000506512.1:n.388G>T
NM_005847.4:c.777G>T	NP_005838.3:p.Leu259=
NM_152685.3:c.789G>T	NP_689898.2:p.Leu263=
XM_005272148.3:c.897G>T	XP_005272205.3:p.Leu299=
XM_005272149.3:c.885G>T	XP_005272206.3:p.Leu295=
XM_006714741.2:c.897G>T	XP_006714804.2:p.Leu299=
XM_011543765.1:c.897G>T	XP_011542067.1:p.Leu299=
XM_011543766.1:c.678G>T	XP_011542068.1:p.Leu226=
XM_011543767.1:c.582G>T	XP_011542069.1:p.Leu194=
XM_011543768.1:c.462G>T	XP_011542070.1:p.Leu154=
XM_011543769.1:c.72G>T	XP_011542071.1:p.Leu24=
XM_005272149.4:c.885G>T	XP_005272206.3:p.Leu295=
XM_011543765.2:c.897G>T	XP_011542067.1:p.Leu299=
NM_005847.5:c.777G>T MANE Select	NP_005838.3:p.Leu259=
NM_152685.4:c.789G>T	NP_689898.2:p.Leu263=