Canonical Allele Identifier: CA2543744413

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.177409561G>A , CM000667.2:g.177409561G>A GRCh38
NC_000005.9:g.176836562G>A , CM000667.1:g.176836562G>A GRCh37
NC_000005.8:g.176769168G>A NCBI36
NG_007568.1:g.5016C>T , LRG_145:g.5016C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000696192.1:c.-34C>T (F12) ENSP00000512476.1:n.-34C>T
ENST00000696193.1:c.-34C>T (F12) ENSP00000512477.1:n.-34C>T
ENST00000696194.1:c.-34C>T (F12) ENSP00000512478.1:n.-34C>T
ENST00000696195.1:n.15C>T (F12)
ENST00000696200.1:n.79-9C>T (F12)
ENST00000253496.4:c.-34C>T (F12) MANE Select ENSP00000253496.3:n.-34C>T
ENST00000253496.3:c.-34C>T (F12) ENSP00000253496.3:n.-34C>T
ENST00000502598.5:c.-45+6035G>A (GRK6) ENSP00000422873.1:n.-45+6035G>A
ENST00000506296.5:c.-45+5004G>A (GRK6) ENSP00000421055.1:n.-45+5004G>A
NM_000505.3:c.-34C>T , LRG_145t1:c.-34C>T (F12) NP_000496.2:n.-34C>T
XM_011534461.1:c.-25-9C>T (F12) XP_011532763.1:n.-25-9C>T
XM_017009773.2:c.1417-2203G>A (SLC34A1) XP_016865262.1:n.1417-2203G>A
NM_000505.4:c.-34C>T (F12) MANE Select NP_000496.2:n.-34C>T