Canonical Allele Identifier: CA412846799
Community Standard Title: NM_203475.3(PORCN):c.846-2A>G
Gene: PORCN HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.48514523A>G , CM000685.2:g.48514523A>G GRCh38
NC_000023.10:g.48372911A>G , CM000685.1:g.48372911A>G GRCh37
NC_000023.9:g.48257855A>G NCBI36
NG_009278.1:g.10541A>G

Transcript Alleles

HGVS Amino-acid Change
NM_203475.3:c.846-2A>G MANE Select NP_982301.1:n.846-2A>G
ENST00000326194.11:c.846-2A>G MANE Select ENSP00000322304.6:n.846-2A>G
NM_001282167.1:c.600-2A>G NP_001269096.1:n.600-2A>G
NM_001282167.2:c.600-2A>G NP_001269096.1:n.600-2A>G
NM_022825.3:c.813-2A>G NP_073736.2:n.813-2A>G
NM_022825.4:c.813-2A>G NP_073736.2:n.813-2A>G
NM_203473.2:c.831-2A>G NP_982299.1:n.831-2A>G
NM_203473.3:c.831-2A>G NP_982299.1:n.831-2A>G
NM_203474.1:c.828-2A>G NP_982300.1:n.828-2A>G
NM_203475.2:c.846-2A>G NP_982301.1:n.846-2A>G
ENST00000326194.10:c.846-2A>G ENSP00000322304.6:n.846-2A>G
ENST00000355092.4:c.678-2A>G ENSP00000347207.4:n.678-2A>G
ENST00000355961.8:c.831-2A>G ENSP00000348233.4:n.831-2A>G
ENST00000359882.8:c.828-2A>G ENSP00000352946.4:n.828-2A>G
ENST00000361988.7:c.813-2A>G ENSP00000354978.3:n.813-2A>G
ENST00000367574.8:c.828-2A>G ENSP00000356546.5:n.828-2A>G
ENST00000367574.9:c.813-2A>G ENSP00000356546.6:n.813-2A>G
ENST00000472520.5:c.*154-2A>G ENSP00000419858.1:n.*154-2A>G
ENST00000485288.6:c.*481-2A>G ENSP00000420445.2:n.*481-2A>G
ENST00000485288.7:c.*481-2A>G ENSP00000420445.3:n.*481-2A>G
ENST00000491243.5:n.1242-2A>G
ENST00000537758.5:c.831-2A>G ENSP00000446401.2:n.831-2A>G
ENST00000537758.6:c.813-2A>G ENSP00000446401.3:n.813-2A>G
ENST00000682661.1:n.2436A>G
ENST00000683923.1:c.813-2A>G ENSP00000506737.1:n.813-2A>G
ENST00000684722.1:n.2400-2A>G
XM_005272635.1:c.1170-2A>G XP_005272692.1:n.1170-2A>G
XM_005272636.1:c.1152-2A>G XP_005272693.1:n.1152-2A>G
XM_005272637.1:c.1098-2A>G XP_005272694.1:n.1098-2A>G
XM_006724544.2:c.951-2A>G XP_006724607.1:n.951-2A>G
XM_006724545.2:c.897-2A>G XP_006724608.1:n.897-2A>G
XM_006724546.2:c.846-2A>G XP_006724609.1:n.846-2A>G
XM_006724547.1:c.633-2A>G XP_006724610.1:n.633-2A>G
XM_011543948.1:c.600-2A>G XP_011542250.1:n.600-2A>G
XM_024452425.1:c.1342A>G XP_024308193.1:p.Arg448Gly