Canonical Allele Identifier: CA808072994

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.177406217G>C , CM000667.2:g.177406217G>C GRCh38
NC_000005.9:g.176833218G>C , CM000667.1:g.176833218G>C GRCh37
NC_000005.8:g.176765824G>C NCBI36
NG_007568.1:g.8360C>G , LRG_145:g.8360C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000696192.1:c.116-156C>G (F12) ENSP00000512476.1:n.116-156C>G
ENST00000696193.1:c.116-88C>G (F12) ENSP00000512477.1:n.116-88C>G
ENST00000696194.1:c.116-156C>G (F12) ENSP00000512478.1:n.116-156C>G
ENST00000696195.1:n.2317C>G (F12)
ENST00000696200.1:n.219-156C>G (F12)
ENST00000696201.1:c.116-156C>G (F12) ENSP00000512482.1:n.116-156C>G
ENST00000253496.4:c.116-156C>G (F12) MANE Select ENSP00000253496.3:n.116-156C>G
ENST00000253496.3:c.116-156C>G (F12) ENSP00000253496.3:n.116-156C>G
ENST00000502598.5:c.-45+2691G>C (GRK6) ENSP00000422873.1:n.-45+2691G>C
ENST00000506296.5:c.-45+1660G>C (GRK6) ENSP00000421055.1:n.-45+1660G>C
NM_000505.3:c.116-156C>G , LRG_145t1:c.116-156C>G (F12) NP_000496.2:n.116-156C>G
XM_011534461.1:c.116-156C>G (F12) XP_011532763.1:n.116-156C>G
XM_017009773.2:c.1417-5547G>C (SLC34A1) XP_016865262.1:n.1417-5547G>C
NM_000505.4:c.116-156C>G (F12) MANE Select NP_000496.2:n.116-156C>G