Canonical Allele Identifier: CA8273189

Gene: WDR81

Linked Data

• ClinVar Variation Id: 2515351
• ClinVar RCV Id: RCV003252083
• dbSNP Id: rs752573381
• ExAC: 17:1631408 T / C
• gnomAD v2: 17-1631408-T-C
• gnomAD v4: 17-1728114-T-C
• MyVariant Identifiers: chr17:g.1631408T>C (hg19) ; chr17:g.1728114T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.1728114T>C , CM000679.2:g.1728114T>C	GRCh38
NC_000017.10:g.1631408T>C , CM000679.1:g.1631408T>C	GRCh37
NC_000017.9:g.1578158T>C	NCBI36
NG_032811.1:g.16592T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000409644.6:c.3155T>C MANE Select	ENSP00000386609.1:p.Met1052Thr
ENST00000309182.9:c.2T>C	ENSP00000312074.5:p.Met1Thr
ENST00000409644.5:c.3155T>C	ENSP00000386609.1:p.Met1052Thr
ENST00000418841.5:c.-89+3328T>C	ENSP00000395198.1:n.-89+3328T>C
ENST00000419248.5:c.-14-2266T>C	ENSP00000407845.1:n.-14-2266T>C
ENST00000437219.6:c.59-2266T>C	ENSP00000391074.2:n.59-2266T>C
ENST00000446363.5:c.-308-2641T>C	ENSP00000401560.1:n.-308-2641T>C
ENST00000455636.5:c.59-2266T>C	ENSP00000395226.1:n.59-2266T>C
ENST00000464528.5:n.541T>C
ENST00000468539.5:c.63-4211T>C	ENSP00000460742.1:n.63-4211T>C
ENST00000492901.1:n.88-2266T>C
NM_001163673.1:c.59-2266T>C	NP_001157145.1:n.59-2266T>C
NM_001163809.1:c.3155T>C	NP_001157281.1:p.Met1052Thr
NM_001163811.1:c.-14-2266T>C	NP_001157283.1:n.-14-2266T>C
NM_152348.3:c.2T>C	NP_689561.2:p.Met1Thr
XM_005256454.2:c.3155T>C	XP_005256511.1:p.Met1052Thr
XM_011523650.1:c.3155T>C	XP_011521952.1:p.Met1052Thr
XM_011523651.1:c.2T>C	XP_011521953.1:p.Met1Thr
XR_933973.1:n.3299T>C
XM_011523651.2:c.2T>C	XP_011521953.1:p.Met1Thr
XM_017024184.1:c.3155T>C	XP_016879673.1:p.Met1052Thr
XR_001752427.1:n.3307T>C
XR_933973.2:n.3307T>C
NM_001163809.2:c.3155T>C MANE Select	NP_001157281.1:p.Met1052Thr
NM_001163811.2:c.-14-2266T>C	NP_001157283.1:n.-14-2266T>C
NM_152348.4:c.2T>C	NP_689561.2:p.Met1Thr
NM_001163673.2:c.59-2266T>C	NP_001157145.1:n.59-2266T>C