Canonical Allele Identifier: CA10654916
Gene: PKHD1 HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 369960
ClinVar RCV Id: RCV000408884
dbSNP Id: rs1057516201

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.51748665C>G , CM000668.2:g.51748665C>G GRCh38
NC_000006.10:g.51721422C>G NCBI36
NC_000006.11:g.51613463C>G , CM000668.1:g.51613463C>G GRCh37
NG_008753.1:g.343961G>C

Transcript Alleles

HGVS Amino-acid change
ENST00000340994.4:c.8951G>C ENSP00000341097.4:p.Gly2984Ala
ENST00000371117.7:c.8951G>C ENSP00000360158.3:p.Gly2984Ala
NM_138694.3:c.8951G>C VV NP_619639.3:p.Gly2984Ala
NM_170724.2:c.8951G>C VV NP_733842.2:p.Gly2984Ala
XM_011514679.1:c.8951G>C XP_011512981.1:p.Gly2984Ala
XM_011514680.1:c.8951G>C XP_011512982.1:p.Gly2984Ala
XM_011514681.1:c.8822G>C XP_011512983.1:p.Gly2941Ala
XM_011514682.1:c.8813G>C XP_011512984.1:p.Gly2938Ala
XM_011514683.1:c.8309G>C XP_011512985.1:p.Gly2770Ala
XM_011514684.1:c.8240G>C XP_011512986.1:p.Gly2747Ala
XM_011514685.1:c.8951G>C XP_011512987.1:p.Gly2984Ala
XM_011514686.1:c.8951G>C XP_011512988.1:p.Gly2984Ala
XM_011514687.1:c.8951G>C XP_011512989.1:p.Gly2984Ala
XM_011514688.1:c.8951G>C XP_011512990.1:p.Gly2984Ala
XM_011514690.1:c.3026G>C XP_011512992.1:p.Gly1009Ala
XM_011514691.1:c.3026G>C XP_011512993.1:p.Gly1009Ala