Canonical Allele Identifier: CA3581088

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.177402466C>T , CM000667.2:g.177402466C>T GRCh38
NC_000005.9:g.176829467C>T , CM000667.1:g.176829467C>T GRCh37
NC_000005.8:g.176762073C>T NCBI36
NG_007568.1:g.12111G>A , LRG_145:g.12111G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000696192.1:c.*1347-7G>A (F12) ENSP00000512476.1:n.*1347-7G>A
ENST00000696193.1:c.*2068-7G>A (F12) ENSP00000512477.1:n.*2068-7G>A
ENST00000696194.1:c.*1271-7G>A (F12) ENSP00000512478.1:n.*1271-7G>A
ENST00000696195.1:n.4503G>A (F12)
ENST00000696200.1:n.2025-7G>A (F12)
ENST00000696201.1:c.1570-7G>A (F12) ENSP00000512482.1:n.1570-7G>A
ENST00000253496.4:c.1681-7G>A (F12) MANE Select ENSP00000253496.3:n.1681-7G>A
ENST00000253496.3:c.1681-7G>A (F12) ENSP00000253496.3:n.1681-7G>A
ENST00000502854.5:n.1181-7G>A (F12)
ENST00000504406.5:n.647-7G>A (F12)
ENST00000510358.5:n.1286-7G>A (F12)
NM_000505.3:c.1681-7G>A , LRG_145t1:c.1681-7G>A (F12) NP_000496.2:n.1681-7G>A
XM_011534461.1:c.1681-7G>A (F12) XP_011532763.1:n.1681-7G>A
XM_011534462.1:c.1345-7G>A (F12) XP_011532764.1:n.1345-7G>A
XM_011534462.2:c.1345-7G>A (F12) XP_011532764.1:n.1345-7G>A
XM_017009773.2:c.1416+5392C>T (SLC34A1) XP_016865262.1:n.1416+5392C>T
NM_000505.4:c.1681-7G>A (F12) MANE Select NP_000496.2:n.1681-7G>A