Canonical Allele Identifier: CA1603619898

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.177409494C= , CM000667.2:g.177409494C= GRCh38
NC_000005.9:g.176836495C= , CM000667.1:g.176836495C= GRCh37
NC_000005.8:g.176769101C= NCBI36
NG_007568.1:g.5083G= , LRG_145:g.5083G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000696192.1:c.34G= (F12) ENSP00000512476.1:p.Val12=
ENST00000696193.1:c.34G= (F12) ENSP00000512477.1:p.Val12=
ENST00000696194.1:c.34G= (F12) ENSP00000512478.1:p.Val12=
ENST00000696195.1:n.82G= (F12)
ENST00000696200.1:n.137G= (F12)
ENST00000696201.1:c.34G= (F12) ENSP00000512482.1:p.Val12=
ENST00000253496.4:c.34G= (F12) MANE Select ENSP00000253496.3:p.Val12=
ENST00000253496.3:c.34G= (F12) ENSP00000253496.3:p.Val12=
ENST00000502598.5:c.-45+5968C= (GRK6) ENSP00000422873.1:n.-45+5968C=
ENST00000506296.5:c.-45+4937C= (GRK6) ENSP00000421055.1:n.-45+4937C=
NM_000505.3:c.34G= , LRG_145t1:c.34G= (F12) NP_000496.2:p.Val12=
XM_011534461.1:c.34G= (F12) XP_011532763.1:p.Val12=
XM_017009773.2:c.1417-2270C= (SLC34A1) XP_016865262.1:n.1417-2270C=
NM_000505.4:c.34G= (F12) MANE Select NP_000496.2:p.Val12=