Canonical Allele Identifier: CA3581409

Linked Data

dbSNP Id: rs749133096

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.177404629T>C , CM000667.2:g.177404629T>C GRCh38
NC_000005.9:g.176831630T>C , CM000667.1:g.176831630T>C GRCh37
NC_000005.8:g.176764236T>C NCBI36
NG_007568.1:g.9948A>G , LRG_145:g.9948A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000696192.1:c.*336A>G (F12) ENSP00000512476.1:n.*336A>G
ENST00000696193.1:c.*1040A>G (F12) ENSP00000512477.1:n.*1040A>G
ENST00000696194.1:c.*260A>G (F12) ENSP00000512478.1:n.*260A>G
ENST00000696195.1:n.3473A>G (F12)
ENST00000696200.1:n.773A>G (F12)
ENST00000696201.1:c.670A>G (F12) ENSP00000512482.1:p.Ser224Gly
ENST00000253496.4:c.670A>G (F12) MANE Select ENSP00000253496.3:p.Ser224Gly
ENST00000253496.3:c.670A>G (F12) ENSP00000253496.3:p.Ser224Gly
ENST00000502598.5:c.-45+1103T>C (GRK6) ENSP00000422873.1:n.-45+1103T>C
ENST00000503736.1:n.172+181A>G (F12)
ENST00000506296.5:c.-45+72T>C (GRK6) ENSP00000421055.1:n.-45+72T>C
NM_000505.3:c.670A>G , LRG_145t1:c.670A>G (F12) NP_000496.2:p.Ser224Gly
XM_011534461.1:c.670A>G (F12) XP_011532763.1:p.Ser224Gly
XM_011534462.1:c.334A>G (F12) XP_011532764.1:p.Ser112Gly
XM_011534462.2:c.334A>G (F12) XP_011532764.1:p.Ser112Gly
XM_017009773.2:c.1417-7135T>C (SLC34A1) XP_016865262.1:n.1417-7135T>C
NM_000505.4:c.670A>G (F12) MANE Select NP_000496.2:p.Ser224Gly