Canonical Allele Identifier: CA128286643
Gene: SLC23A1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.139374887G>T , CM000667.2:g.139374887G>T GRCh38
NC_000005.9:g.138710576G>T , CM000667.1:g.138710576G>T GRCh37
NC_000005.8:g.138738475G>T NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000348729.8:c.1549+2515C>A MANE Select ENSP00000302701.4:n.1549+2515C>A
ENST00000348729.7:c.1549+2515C>A ENSP00000302701.4:n.1549+2515C>A
ENST00000353963.7:c.1561+2515C>A ENSP00000302851.5:n.1561+2515C>A
NM_005847.4:c.1549+2515C>A NP_005838.3:n.1549+2515C>A
NM_152685.3:c.1561+2515C>A NP_689898.2:n.1561+2515C>A
XM_005272148.3:c.1669+2515C>A XP_005272205.3:n.1669+2515C>A
XM_005272149.3:c.1657+2515C>A XP_005272206.3:n.1657+2515C>A
XM_006714741.2:c.1574-2634C>A XP_006714804.2:n.1574-2634C>A
XM_011543765.1:c.1669+2515C>A XP_011542067.1:n.1669+2515C>A
XM_011543766.1:c.1450+2515C>A XP_011542068.1:n.1450+2515C>A
XM_011543767.1:c.1354+2515C>A XP_011542069.1:n.1354+2515C>A
XM_011543768.1:c.1234+2515C>A XP_011542070.1:n.1234+2515C>A
XM_011543769.1:c.844+2515C>A XP_011542071.1:n.844+2515C>A
XM_005272149.4:c.1657+2515C>A XP_005272206.3:n.1657+2515C>A
XM_011543765.2:c.1669+2515C>A XP_011542067.1:n.1669+2515C>A
NM_005847.5:c.1549+2515C>A MANE Select NP_005838.3:n.1549+2515C>A
NM_152685.4:c.1561+2515C>A NP_689898.2:n.1561+2515C>A