Canonical Allele Identifier: CA2710775385

Linked Data

dbSNP Id: rs1401774835

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.177405954A>T , CM000667.2:g.177405954A>T GRCh38
NC_000005.9:g.176832955A>T , CM000667.1:g.176832955A>T GRCh37
NC_000005.8:g.176765561A>T NCBI36
NG_007568.1:g.8623T>A , LRG_145:g.8623T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000696192.1:c.215+8T>A (F12) ENSP00000512476.1:n.215+8T>A
ENST00000696193.1:c.*139+8T>A (F12) ENSP00000512477.1:n.*139+8T>A
ENST00000696194.1:c.215+8T>A (F12) ENSP00000512478.1:n.215+8T>A
ENST00000696195.1:n.2572+8T>A (F12)
ENST00000696200.1:n.318+8T>A (F12)
ENST00000696201.1:c.215+8T>A (F12) ENSP00000512482.1:n.215+8T>A
ENST00000253496.4:c.215+8T>A (F12) MANE Select ENSP00000253496.3:n.215+8T>A
ENST00000253496.3:c.215+8T>A (F12) ENSP00000253496.3:n.215+8T>A
ENST00000502598.5:c.-45+2428A>T (GRK6) ENSP00000422873.1:n.-45+2428A>T
ENST00000506296.5:c.-45+1397A>T (GRK6) ENSP00000421055.1:n.-45+1397A>T
NM_000505.3:c.215+8T>A , LRG_145t1:c.215+8T>A (F12) NP_000496.2:n.215+8T>A
XM_011534461.1:c.215+8T>A (F12) XP_011532763.1:n.215+8T>A
XM_017009773.2:c.1417-5810A>T (SLC34A1) XP_016865262.1:n.1417-5810A>T
NM_000505.4:c.215+8T>A (F12) MANE Select NP_000496.2:n.215+8T>A