Canonical Allele Identifier: CA362328321

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.177404244T>C , CM000667.2:g.177404244T>C GRCh38
NC_000005.9:g.176831245T>C , CM000667.1:g.176831245T>C GRCh37
NC_000005.8:g.176763851T>C NCBI36
NG_007568.1:g.10333A>G , LRG_145:g.10333A>G

Transcript Alleles

HGVS Amino-acid change
ENST00000696192.1:c.*636A>G (F12) ENSP00000512476.1:n.*636A>G
ENST00000696193.1:c.*1340A>G (F12) ENSP00000512477.1:n.*1340A>G
ENST00000696194.1:c.*560A>G (F12) ENSP00000512478.1:n.*560A>G
ENST00000696195.1:n.3773A>G (F12)
ENST00000696200.1:n.1073A>G (F12)
ENST00000696201.1:c.970A>G (F12) ENSP00000512482.1:p.Lys324Glu
ENST00000253496.4:c.970A>G (F12) MANE Select ENSP00000253496.3:p.Lys324Glu
ENST00000253496.3:c.970A>G (F12) ENSP00000253496.3:p.Lys324Glu
ENST00000502598.5:c.-45+718T>C (GRK6) ENSP00000422873.1:n.-45+718T>C
ENST00000502854.5:n.229A>G (F12)
ENST00000503736.1:n.342A>G (F12)
ENST00000510358.5:n.229A>G (F12)
NM_000505.3:c.970A>G , LRG_145t1:c.970A>G (F12) NP_000496.2:p.Lys324Glu
XM_011534461.1:c.970A>G (F12) XP_011532763.1:p.Lys324Glu
XM_011534462.1:c.634A>G (F12) XP_011532764.1:p.Lys212Glu
XM_011534462.2:c.634A>G (F12) XP_011532764.1:p.Lys212Glu
XM_017009773.2:c.1416+7170T>C (SLC34A1) XP_016865262.1:n.1416+7170T>C
NM_000505.4:c.970A>G (F12) MANE Select NP_000496.2:p.Lys324Glu