Canonical Allele Identifier: CA362328323

Linked Data

Genomic Alleles

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

Transcript Alleles

HGVS Amino-acid change
ENST00000696192.1:c.*636A>C (F12) ENSP00000512476.1:n.*636A>C
ENST00000696193.1:c.*1340A>C (F12) ENSP00000512477.1:n.*1340A>C
ENST00000696194.1:c.*560A>C (F12) ENSP00000512478.1:n.*560A>C
ENST00000696195.1:n.3773A>C (F12)
ENST00000696200.1:n.1073A>C (F12)
ENST00000696201.1:c.970A>C (F12) ENSP00000512482.1:p.Lys324Gln
ENST00000253496.4:c.970A>C (F12) MANE Select ENSP00000253496.3:p.Lys324Gln
ENST00000253496.3:c.970A>C (F12) ENSP00000253496.3:p.Lys324Gln
ENST00000502598.5:c.-45+718T>G (GRK6) ENSP00000422873.1:n.-45+718T>G
ENST00000502854.5:n.229A>C (F12)
ENST00000503736.1:n.342A>C (F12)
ENST00000510358.5:n.229A>C (F12)
NM_000505.3:c.970A>C , LRG_145t1:c.970A>C (F12) NP_000496.2:p.Lys324Gln
XM_011534461.1:c.970A>C (F12) XP_011532763.1:p.Lys324Gln
XM_011534462.1:c.634A>C (F12) XP_011532764.1:p.Lys212Gln
XM_011534462.2:c.634A>C (F12) XP_011532764.1:p.Lys212Gln
XM_017009773.2:c.1416+7170T>G (SLC34A1) XP_016865262.1:n.1416+7170T>G
NM_000505.4:c.970A>C (F12) MANE Select NP_000496.2:p.Lys324Gln