Canonical Allele Identifier: CA1603608441

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.177403633G= , CM000667.2:g.177403633G= GRCh38
NC_000005.9:g.176830634G= , CM000667.1:g.176830634G= GRCh37
NC_000005.8:g.176763240G= NCBI36
NG_007568.1:g.10944C= , LRG_145:g.10944C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000696192.1:c.*917-16C= (F12) ENSP00000512476.1:n.*917-16C=
ENST00000696193.1:c.*1638-16C= (F12) ENSP00000512477.1:n.*1638-16C=
ENST00000696194.1:c.*841-16C= (F12) ENSP00000512478.1:n.*841-16C=
ENST00000696195.1:n.4054-16C= (F12)
ENST00000696200.1:n.1579C= (F12)
ENST00000696201.1:c.1251-16C= (F12) ENSP00000512482.1:n.1251-16C=
ENST00000253496.4:c.1251-16C= (F12) MANE Select ENSP00000253496.3:n.1251-16C=
ENST00000253496.3:c.1251-16C= (F12) ENSP00000253496.3:n.1251-16C=
ENST00000502598.5:c.-45+107G= (GRK6) ENSP00000422873.1:n.-45+107G=
ENST00000502854.5:n.735C= (F12)
ENST00000503736.1:n.623-16C= (F12)
ENST00000504406.5:n.118C= (F12)
ENST00000510358.5:n.840C= (F12)
NM_000505.3:c.1251-16C= , LRG_145t1:c.1251-16C= (F12) NP_000496.2:n.1251-16C=
XM_011534461.1:c.1251-16C= (F12) XP_011532763.1:n.1251-16C=
XM_011534462.1:c.915-16C= (F12) XP_011532764.1:n.915-16C=
XM_011534462.2:c.915-16C= (F12) XP_011532764.1:n.915-16C=
XM_017009773.2:c.1416+6559G= (SLC34A1) XP_016865262.1:n.1416+6559G=
NM_000505.4:c.1251-16C= (F12) MANE Select NP_000496.2:n.1251-16C=