Canonical Allele Identifier: CA2710740369

Linked Data

dbSNP Id: rs760162317

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.177405917A>C , CM000667.2:g.177405917A>C GRCh38
NC_000005.9:g.176832918A>C , CM000667.1:g.176832918A>C GRCh37
NC_000005.8:g.176765524A>C NCBI36
NG_007568.1:g.8660T>G , LRG_145:g.8660T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000696192.1:c.215+45T>G (F12) ENSP00000512476.1:n.215+45T>G
ENST00000696193.1:c.*139+45T>G (F12) ENSP00000512477.1:n.*139+45T>G
ENST00000696194.1:c.215+45T>G (F12) ENSP00000512478.1:n.215+45T>G
ENST00000696195.1:n.2572+45T>G (F12)
ENST00000696200.1:n.318+45T>G (F12)
ENST00000696201.1:c.215+45T>G (F12) ENSP00000512482.1:n.215+45T>G
ENST00000253496.4:c.215+45T>G (F12) MANE Select ENSP00000253496.3:n.215+45T>G
ENST00000253496.3:c.215+45T>G (F12) ENSP00000253496.3:n.215+45T>G
ENST00000502598.5:c.-45+2391A>C (GRK6) ENSP00000422873.1:n.-45+2391A>C
ENST00000506296.5:c.-45+1360A>C (GRK6) ENSP00000421055.1:n.-45+1360A>C
NM_000505.3:c.215+45T>G , LRG_145t1:c.215+45T>G (F12) NP_000496.2:n.215+45T>G
XM_011534461.1:c.215+45T>G (F12) XP_011532763.1:n.215+45T>G
XM_017009773.2:c.1417-5847A>C (SLC34A1) XP_016865262.1:n.1417-5847A>C
NM_000505.4:c.215+45T>G (F12) MANE Select NP_000496.2:n.215+45T>G