Canonical Allele Identifier: CA1603608952

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.177404190C= , CM000667.2:g.177404190C= GRCh38
NC_000005.9:g.176831191C= , CM000667.1:g.176831191C= GRCh37
NC_000005.8:g.176763797C= NCBI36
NG_007568.1:g.10387G= , LRG_145:g.10387G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000696192.1:c.*684+6G= (F12) ENSP00000512476.1:n.*684+6G=
ENST00000696193.1:c.*1388+6G= (F12) ENSP00000512477.1:n.*1388+6G=
ENST00000696194.1:c.*608+6G= (F12) ENSP00000512478.1:n.*608+6G=
ENST00000696195.1:n.3821+6G= (F12)
ENST00000696200.1:n.1121+6G= (F12)
ENST00000696201.1:c.1018+6G= (F12) ENSP00000512482.1:n.1018+6G=
ENST00000253496.4:c.1018+6G= (F12) MANE Select ENSP00000253496.3:n.1018+6G=
ENST00000253496.3:c.1018+6G= (F12) ENSP00000253496.3:n.1018+6G=
ENST00000502598.5:c.-45+664C= (GRK6) ENSP00000422873.1:n.-45+664C=
ENST00000502854.5:n.277+6G= (F12)
ENST00000503736.1:n.390+6G= (F12)
ENST00000510358.5:n.283G= (F12)
NM_000505.3:c.1018+6G= , LRG_145t1:c.1018+6G= (F12) NP_000496.2:n.1018+6G=
XM_011534461.1:c.1018+6G= (F12) XP_011532763.1:n.1018+6G=
XM_011534462.1:c.682+6G= (F12) XP_011532764.1:n.682+6G=
XM_011534462.2:c.682+6G= (F12) XP_011532764.1:n.682+6G=
XM_017009773.2:c.1416+7116C= (SLC34A1) XP_016865262.1:n.1416+7116C=
NM_000505.4:c.1018+6G= (F12) MANE Select NP_000496.2:n.1018+6G=