Canonical Allele Identifier: CA2842674396
Gene: SLC23A1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.139379854G>T , CM000667.2:g.139379854G>T GRCh38
NC_000005.9:g.138715543G>T , CM000667.1:g.138715543G>T GRCh37
NC_000005.8:g.138743442G>T NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000348729.8:c.769-20C>A MANE Select ENSP00000302701.4:n.769-20C>A
ENST00000348729.7:c.769-20C>A ENSP00000302701.4:n.769-20C>A
ENST00000353963.7:c.781-20C>A ENSP00000302851.5:n.781-20C>A
ENST00000504513.1:c.164+102C>A
ENST00000506512.1:n.360C>A
NM_005847.4:c.769-20C>A NP_005838.3:n.769-20C>A
NM_152685.3:c.781-20C>A NP_689898.2:n.781-20C>A
XM_005272148.3:c.889-20C>A XP_005272205.3:n.889-20C>A
XM_005272149.3:c.877-20C>A XP_005272206.3:n.877-20C>A
XM_006714741.2:c.889-20C>A XP_006714804.2:n.889-20C>A
XM_011543765.1:c.889-20C>A XP_011542067.1:n.889-20C>A
XM_011543766.1:c.670-20C>A XP_011542068.1:n.670-20C>A
XM_011543767.1:c.574-20C>A XP_011542069.1:n.574-20C>A
XM_011543768.1:c.454-20C>A XP_011542070.1:n.454-20C>A
XM_011543769.1:c.64-20C>A XP_011542071.1:n.64-20C>A
XM_005272149.4:c.877-20C>A XP_005272206.3:n.877-20C>A
XM_011543765.2:c.889-20C>A XP_011542067.1:n.889-20C>A
NM_005847.5:c.769-20C>A MANE Select NP_005838.3:n.769-20C>A
NM_152685.4:c.781-20C>A NP_689898.2:n.781-20C>A