Canonical Allele Identifier: CA6140890

Linked Data

dbSNP Id: rs370717327

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.67490255G>C , CM000673.2:g.67490255G>C GRCh38
NC_000011.9:g.67257726G>C , CM000673.1:g.67257726G>C GRCh37
NC_000011.8:g.67014302G>C NCBI36
NG_008969.1:g.12222G>C , LRG_460:g.12222G>C

Transcript Alleles

HGVS Amino-acid change
ENST00000525341.2:c.622+41G>C (AIP)
ENST00000528641.7:c.456+41G>C (AIP) ENSP00000434982.3:n.456+41G>C
ENST00000529797.2:n.1157+41G>C (AIP)
ENST00000682324.1:c.469-742G>C (AIP) ENSP00000508017.1:n.469-742G>C
ENST00000682659.1:c.276+41G>C (AIP) ENSP00000507351.1:n.276+41G>C
ENST00000682699.1:c.645+41G>C (AIP) ENSP00000507935.1:n.645+41G>C
ENST00000683237.1:c.645+41G>C (AIP) ENSP00000507343.1:n.645+41G>C
ENST00000683856.1:c.468+41G>C (AIP) ENSP00000507979.1:n.468+41G>C
ENST00000684006.1:c.645+41G>C (AIP) ENSP00000507269.1:n.645+41G>C
ENST00000684657.1:c.465+41G>C (AIP) ENSP00000507961.1:n.465+41G>C
ENST00000279146.8:c.645+41G>C (AIP) MANE Select ENSP00000279146.3:n.645+41G>C
ENST00000279146.7:c.645+41G>C (AIP) ENSP00000279146.3:n.645+41G>C
ENST00000525341.1:c.297+41G>C (AIP) ENSP00000476993.1:n.297+41G>C
ENST00000528641.6:c.456+41G>C (AIP) ENSP00000434982.2:n.456+41G>C
NM_001302959.1:c.468+41G>C (AIP) NP_001289888.1:n.468+41G>C
NM_001302960.1:c.645+41G>C (AIP) NP_001289889.1:n.645+41G>C
NM_003977.3:c.645+41G>C (AIP) NP_003968.3:n.645+41G>C
NR_106810.1:n.11G>C (MIR6752)
XM_024448761.1:c.645+41G>C (AIP) XP_024304529.1:n.645+41G>C
NM_003977.4:c.645+41G>C (AIP) MANE Select NP_003968.3:n.645+41G>C
NM_001302960.2:c.645+41G>C (AIP) NP_001289889.1:n.645+41G>C
NM_001302959.2:c.468+41G>C (AIP) NP_001289888.1:n.468+41G>C