Canonical Allele Identifier: CA808070573

Linked Data

dbSNP Id: rs1484191768

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.177404157C>A , CM000667.2:g.177404157C>A GRCh38
NC_000005.9:g.176831158C>A , CM000667.1:g.176831158C>A GRCh37
NC_000005.8:g.176763764C>A NCBI36
NG_007568.1:g.10420G>T , LRG_145:g.10420G>T

Transcript Alleles

HGVS Amino-acid change
ENST00000696192.1:c.*684+39G>T (F12) ENSP00000512476.1:n.*684+39G>T
ENST00000696193.1:c.*1388+39G>T (F12) ENSP00000512477.1:n.*1388+39G>T
ENST00000696194.1:c.*608+39G>T (F12) ENSP00000512478.1:n.*608+39G>T
ENST00000696195.1:n.3821+39G>T (F12)
ENST00000696200.1:n.1121+39G>T (F12)
ENST00000696201.1:c.1018+39G>T (F12) ENSP00000512482.1:n.1018+39G>T
ENST00000253496.4:c.1018+39G>T (F12) MANE Select ENSP00000253496.3:n.1018+39G>T
ENST00000253496.3:c.1018+39G>T (F12) ENSP00000253496.3:n.1018+39G>T
ENST00000502598.5:c.-45+631C>A (GRK6) ENSP00000422873.1:n.-45+631C>A
ENST00000502854.5:n.277+39G>T (F12)
ENST00000503736.1:n.390+39G>T (F12)
ENST00000510358.5:n.316G>T (F12)
NM_000505.3:c.1018+39G>T , LRG_145t1:c.1018+39G>T (F12) NP_000496.2:n.1018+39G>T
XM_011534461.1:c.1018+39G>T (F12) XP_011532763.1:n.1018+39G>T
XM_011534462.1:c.682+39G>T (F12) XP_011532764.1:n.682+39G>T
XM_011534462.2:c.682+39G>T (F12) XP_011532764.1:n.682+39G>T
XM_017009773.2:c.1416+7083C>A (SLC34A1) XP_016865262.1:n.1416+7083C>A
NM_000505.4:c.1018+39G>T (F12) MANE Select NP_000496.2:n.1018+39G>T