Canonical Allele Identifier: CA2578422353

Gene: SLC23A1

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.139379665G>T , CM000667.2:g.139379665G>T	GRCh38
NC_000005.9:g.138715354G>T , CM000667.1:g.138715354G>T	GRCh37
NC_000005.8:g.138743253G>T	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000348729.8:c.925+13C>A MANE Select	ENSP00000302701.4:n.925+13C>A
ENST00000348729.7:c.925+13C>A	ENSP00000302701.4:n.925+13C>A
ENST00000353963.7:c.937+13C>A	ENSP00000302851.5:n.937+13C>A
ENST00000504513.1:c.164+291C>A
ENST00000506512.1:n.536+13C>A
NM_005847.4:c.925+13C>A	NP_005838.3:n.925+13C>A
NM_152685.3:c.937+13C>A	NP_689898.2:n.937+13C>A
XM_005272148.3:c.1045+13C>A	XP_005272205.3:n.1045+13C>A
XM_005272149.3:c.1033+13C>A	XP_005272206.3:n.1033+13C>A
XM_006714741.2:c.1045+13C>A	XP_006714804.2:n.1045+13C>A
XM_011543765.1:c.1045+13C>A	XP_011542067.1:n.1045+13C>A
XM_011543766.1:c.826+13C>A	XP_011542068.1:n.826+13C>A
XM_011543767.1:c.730+13C>A	XP_011542069.1:n.730+13C>A
XM_011543768.1:c.610+13C>A	XP_011542070.1:n.610+13C>A
XM_011543769.1:c.220+13C>A	XP_011542071.1:n.220+13C>A
XM_005272149.4:c.1033+13C>A	XP_005272206.3:n.1033+13C>A
XM_011543765.2:c.1045+13C>A	XP_011542067.1:n.1045+13C>A
NM_005847.5:c.925+13C>A MANE Select	NP_005838.3:n.925+13C>A
NM_152685.4:c.937+13C>A	NP_689898.2:n.937+13C>A