Canonical Allele Identifier: CA1603612881

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.177406084G= , CM000667.2:g.177406084G= GRCh38
NC_000005.9:g.176833085G= , CM000667.1:g.176833085G= GRCh37
NC_000005.8:g.176765691G= NCBI36
NG_007568.1:g.8493C= , LRG_145:g.8493C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000696192.1:c.116-23C= (F12) ENSP00000512476.1:n.116-23C=
ENST00000696193.1:c.*17C= (F12) ENSP00000512477.1:n.*17C=
ENST00000696194.1:c.116-23C= (F12) ENSP00000512478.1:n.116-23C=
ENST00000696195.1:n.2450C= (F12)
ENST00000696200.1:n.219-23C= (F12)
ENST00000696201.1:c.116-23C= (F12) ENSP00000512482.1:n.116-23C=
ENST00000253496.4:c.116-23C= (F12) MANE Select ENSP00000253496.3:n.116-23C=
ENST00000253496.3:c.116-23C= (F12) ENSP00000253496.3:n.116-23C=
ENST00000502598.5:c.-45+2558G= (GRK6) ENSP00000422873.1:n.-45+2558G=
ENST00000506296.5:c.-45+1527G= (GRK6) ENSP00000421055.1:n.-45+1527G=
NM_000505.3:c.116-23C= , LRG_145t1:c.116-23C= (F12) NP_000496.2:n.116-23C=
XM_011534461.1:c.116-23C= (F12) XP_011532763.1:n.116-23C=
XM_017009773.2:c.1417-5680G= (SLC34A1) XP_016865262.1:n.1417-5680G=
NM_000505.4:c.116-23C= (F12) MANE Select NP_000496.2:n.116-23C=