Canonical Allele Identifier: CA49252857
Community Standard Title: NM_015910.7(WDPCP):c.75+8323T>G
Gene: WDPCP HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.63579874A>C , CM000664.2:g.63579874A>C GRCh38
NC_000002.11:g.63807008A>C , CM000664.1:g.63807008A>C GRCh37
NC_000002.10:g.63660512A>C NCBI36
NG_028144.1:g.13860T>G
NG_028144.2:g.265952T>G

Transcript Alleles

HGVS Amino-acid Change
NM_015910.7:c.75+8323T>G MANE Select NP_056994.3:n.75+8323T>G
ENST00000272321.12:c.75+8323T>G MANE Select ENSP00000272321.7:n.75+8323T>G
NM_001354044.1:c.-249-8248T>G NP_001340973.1:n.-249-8248T>G
NM_001354044.2:c.-249-8248T>G NP_001340973.1:n.-249-8248T>G
NM_001354045.1:c.75+8323T>G NP_001340974.1:n.75+8323T>G
NM_001354045.2:c.75+8323T>G NP_001340974.1:n.75+8323T>G
NM_015910.5:c.75+8323T>G NP_056994.3:n.75+8323T>G
NM_015910.6:c.75+8323T>G NP_056994.3:n.75+8323T>G
NR_148704.1:n.604-8248T>G
NR_148704.2:n.282-8248T>G
NR_148705.1:n.603+8323T>G
NR_148705.2:n.281+8323T>G
ENST00000272321.11:c.75+8323T>G ENSP00000272321.7:n.75+8323T>G
ENST00000409562.7:c.75+8323T>G ENSP00000387222.3:n.75+8323T>G
ENST00000409835.5:n.322+8323T>G
ENST00000417238.5:c.76-8248T>G ENSP00000411429.1:n.76-8248T>G
ENST00000418148.5:c.70+8323T>G
ENST00000431065.1:c.75+8323T>G ENSP00000396226.1:n.75+8323T>G
ENST00000467687.1:n.488+70785T>G
ENST00000484073.1:n.304+8323T>G
ENST00000490935.5:n.583+70785T>G
XM_005264348.2:c.75+8323T>G XP_005264405.1:n.75+8323T>G
XM_005264348.4:c.75+8323T>G XP_005264405.1:n.75+8323T>G
XM_011532881.1:c.-249-8248T>G XP_011531183.1:n.-249-8248T>G
XM_011532881.3:c.-249-8248T>G XP_011531183.1:n.-249-8248T>G
XM_011532882.1:c.-25+70785T>G XP_011531184.1:n.-25+70785T>G
XM_011532883.1:c.75+8323T>G XP_011531185.1:n.75+8323T>G
XM_011532884.1:c.75+8323T>G XP_011531186.1:n.75+8323T>G
XM_011532884.3:c.75+8323T>G XP_011531186.1:n.75+8323T>G
XM_011532885.1:c.75+8323T>G XP_011531187.1:n.75+8323T>G
XM_011532886.1:c.75+8323T>G XP_011531188.1:n.75+8323T>G
XM_011532887.1:c.75+8323T>G XP_011531189.1:n.75+8323T>G
XM_011532887.3:c.75+8323T>G XP_011531189.1:n.75+8323T>G
XM_011532888.1:c.75+8323T>G XP_011531190.1:n.75+8323T>G
XM_011532889.1:c.75+8323T>G XP_011531191.1:n.75+8323T>G
XM_011532890.1:c.75+8323T>G XP_011531192.1:n.75+8323T>G
XM_011532890.3:c.75+8323T>G XP_011531192.1:n.75+8323T>G
XM_011532891.1:c.-249-8248T>G XP_011531193.1:n.-249-8248T>G
XM_011532891.2:c.-249-8248T>G XP_011531193.1:n.-249-8248T>G
XM_017004253.2:c.75+8323T>G XP_016859742.1:n.75+8323T>G
XM_017004254.2:c.75+8323T>G XP_016859743.1:n.75+8323T>G
XR_001738759.2:n.537+8323T>G
XR_001738760.2:n.537+8323T>G
XR_002959303.1:n.537+8323T>G
XR_244934.1:n.322+8323T>G
XR_244934.3:n.537+8323T>G
XR_244935.1:n.322+8323T>G
XR_939686.1:n.322+8323T>G