Canonical Allele Identifier: CA362327984

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.177404068C>G , CM000667.2:g.177404068C>G GRCh38
NC_000005.9:g.176831069C>G , CM000667.1:g.176831069C>G GRCh37
NC_000005.8:g.176763675C>G NCBI36
NG_007568.1:g.10509G>C , LRG_145:g.10509G>C

Transcript Alleles

HGVS Amino-acid change
ENST00000696192.1:c.*707G>C (F12) ENSP00000512476.1:n.*707G>C
ENST00000696193.1:c.*1428G>C (F12) ENSP00000512477.1:n.*1428G>C
ENST00000696194.1:c.*631G>C (F12) ENSP00000512478.1:n.*631G>C
ENST00000696195.1:n.3844G>C (F12)
ENST00000696200.1:n.1144G>C (F12)
ENST00000696201.1:c.1041G>C (F12) ENSP00000512482.1:p.Gln347His
ENST00000253496.4:c.1041G>C (F12) MANE Select ENSP00000253496.3:p.Gln347His
ENST00000253496.3:c.1041G>C (F12) ENSP00000253496.3:p.Gln347His
ENST00000502598.5:c.-45+542C>G (GRK6) ENSP00000422873.1:n.-45+542C>G
ENST00000502854.5:n.300G>C (F12)
ENST00000503736.1:n.413G>C (F12)
ENST00000510358.5:n.405G>C (F12)
NM_000505.3:c.1041G>C , LRG_145t1:c.1041G>C (F12) NP_000496.2:p.Gln347His
XM_011534461.1:c.1041G>C (F12) XP_011532763.1:p.Gln347His
XM_011534462.1:c.705G>C (F12) XP_011532764.1:p.Gln235His
XM_011534462.2:c.705G>C (F12) XP_011532764.1:p.Gln235His
XM_017009773.2:c.1416+6994C>G (SLC34A1) XP_016865262.1:n.1416+6994C>G
NM_000505.4:c.1041G>C (F12) MANE Select NP_000496.2:p.Gln347His