Canonical Allele Identifier: CA6140893

Linked Data

dbSNP Id: rs781546291

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.67490268G>A , CM000673.2:g.67490268G>A GRCh38
NC_000011.9:g.67257739G>A , CM000673.1:g.67257739G>A GRCh37
NC_000011.8:g.67014315G>A NCBI36
NG_008969.1:g.12235G>A , LRG_460:g.12235G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000525341.2:c.623-48G>A (AIP)
ENST00000528641.7:c.457-48G>A (AIP) ENSP00000434982.3:n.457-48G>A
ENST00000529797.2:n.1158-48G>A (AIP)
ENST00000682324.1:c.469-729G>A (AIP) ENSP00000508017.1:n.469-729G>A
ENST00000682659.1:c.277-48G>A (AIP) ENSP00000507351.1:n.277-48G>A
ENST00000682699.1:c.646-48G>A (AIP) ENSP00000507935.1:n.646-48G>A
ENST00000683237.1:c.646-48G>A (AIP) ENSP00000507343.1:n.646-48G>A
ENST00000683856.1:c.469-48G>A (AIP) ENSP00000507979.1:n.469-48G>A
ENST00000684006.1:c.646-48G>A (AIP) ENSP00000507269.1:n.646-48G>A
ENST00000684657.1:c.466-48G>A (AIP) ENSP00000507961.1:n.466-48G>A
ENST00000279146.8:c.646-48G>A (AIP) MANE Select ENSP00000279146.3:n.646-48G>A
ENST00000279146.7:c.646-48G>A (AIP) ENSP00000279146.3:n.646-48G>A
ENST00000525341.1:c.298-48G>A (AIP) ENSP00000476993.1:n.298-48G>A
ENST00000528641.6:c.457-48G>A (AIP) ENSP00000434982.2:n.457-48G>A
NM_001302959.1:c.469-48G>A (AIP) NP_001289888.1:n.469-48G>A
NM_001302960.1:c.646-48G>A (AIP) NP_001289889.1:n.646-48G>A
NM_003977.3:c.646-48G>A (AIP) NP_003968.3:n.646-48G>A
NR_106810.1:n.24G>A (MIR6752)
XM_024448761.1:c.646-48G>A (AIP) XP_024304529.1:n.646-48G>A
NM_003977.4:c.646-48G>A (AIP) MANE Select NP_003968.3:n.646-48G>A
NM_001302960.2:c.646-48G>A (AIP) NP_001289889.1:n.646-48G>A
NM_001302959.2:c.469-48G>A (AIP) NP_001289888.1:n.469-48G>A