Canonical Allele Identifier: CA3850968
Gene: PKHD1 HGNC NCBI

Linked Data

dbSNP Id: rs771301259
gnomAD v2: 6-51523877-T-C

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.51659079T>C , CM000668.2:g.51659079T>C GRCh38
NC_000006.11:g.51523877T>C , CM000668.1:g.51523877T>C GRCh37
NC_000006.10:g.51631836T>C NCBI36
NG_008753.1:g.433547A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000371117.8:c.11047A>G MANE Select ENSP00000360158.3:p.Ser3683Gly
ENST00000371117.7:c.11047A>G ENSP00000360158.3:p.Ser3683Gly
NM_138694.3:c.11047A>G NP_619639.3:p.Ser3683Gly
XM_011514679.1:c.11047A>G XP_011512981.1:p.Ser3683Gly
XM_011514680.1:c.11047A>G XP_011512982.1:p.Ser3683Gly
XM_011514681.1:c.10918A>G XP_011512983.1:p.Ser3640Gly
XM_011514682.1:c.10909A>G XP_011512984.1:p.Ser3637Gly
XM_011514683.1:c.10405A>G XP_011512985.1:p.Ser3469Gly
XM_011514684.1:c.10336A>G XP_011512986.1:p.Ser3446Gly
XM_011514687.1:c.10157-9859A>G XP_011512989.1:n.10157-9859A>G
XM_011514690.1:c.5122A>G XP_011512992.1:p.Ser1708Gly
XM_011514691.1:c.5122A>G XP_011512993.1:p.Ser1708Gly
XR_926870.1:n.535+6706T>C
XR_926871.1:n.403+6706T>C
XR_926872.1:n.535+6706T>C
XM_011514680.3:c.11047A>G XP_011512982.1:p.Ser3683Gly
XM_011514682.3:c.10909A>G XP_011512984.1:p.Ser3637Gly
XM_011514683.3:c.10405A>G XP_011512985.1:p.Ser3469Gly
XM_011514684.3:c.10336A>G XP_011512986.1:p.Ser3446Gly
XM_011514690.3:c.5122A>G XP_011512992.1:p.Ser1708Gly
XM_011514691.3:c.5122A>G XP_011512993.1:p.Ser1708Gly
XM_017010944.2:c.11047A>G XP_016866433.1:p.Ser3683Gly
XM_017010945.2:c.10972A>G XP_016866434.1:p.Ser3658Gly
XM_017010946.2:c.10852A>G XP_016866435.1:p.Ser3618Gly
XM_017010947.2:c.10783A>G XP_016866436.1:p.Ser3595Gly
XM_017010948.2:c.10336A>G XP_016866437.1:p.Ser3446Gly
XM_017010949.2:c.9187A>G XP_016866438.1:p.Ser3063Gly
XR_001743469.1:n.11323A>G
XR_001744157.1:n.3145+6706T>C
XR_926870.2:n.3145+6706T>C
XR_926871.2:n.3013+6706T>C
XR_926872.2:n.3145+6706T>C
NM_138694.4:c.11047A>G MANE Select NP_619639.3:p.Ser3683Gly