Canonical Allele Identifier: CA138897022
Gene: PKHD1 HGNC NCBI

Linked Data

dbSNP Id: rs920207688
gnomAD v2: 6-51523979-C-T
gnomAD v3: 6-51659181-C-T
gnomAD v4: 6-51659181-C-T

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.51659181C>T , CM000668.2:g.51659181C>T GRCh38
NC_000006.11:g.51523979C>T , CM000668.1:g.51523979C>T GRCh37
NC_000006.10:g.51631938C>T NCBI36
NG_008753.1:g.433445G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000371117.8:c.10945G>A MANE Select ENSP00000360158.3:p.Ala3649Thr
ENST00000371117.7:c.10945G>A ENSP00000360158.3:p.Ala3649Thr
NM_138694.3:c.10945G>A NP_619639.3:p.Ala3649Thr
XM_011514679.1:c.10945G>A XP_011512981.1:p.Ala3649Thr
XM_011514680.1:c.10945G>A XP_011512982.1:p.Ala3649Thr
XM_011514681.1:c.10816G>A XP_011512983.1:p.Ala3606Thr
XM_011514682.1:c.10807G>A XP_011512984.1:p.Ala3603Thr
XM_011514683.1:c.10303G>A XP_011512985.1:p.Ala3435Thr
XM_011514684.1:c.10234G>A XP_011512986.1:p.Ala3412Thr
XM_011514687.1:c.10157-9961G>A XP_011512989.1:n.10157-9961G>A
XM_011514690.1:c.5020G>A XP_011512992.1:p.Ala1674Thr
XM_011514691.1:c.5020G>A XP_011512993.1:p.Ala1674Thr
XR_926870.1:n.535+6808C>T
XR_926871.1:n.403+6808C>T
XR_926872.1:n.535+6808C>T
XM_011514680.3:c.10945G>A XP_011512982.1:p.Ala3649Thr
XM_011514682.3:c.10807G>A XP_011512984.1:p.Ala3603Thr
XM_011514683.3:c.10303G>A XP_011512985.1:p.Ala3435Thr
XM_011514684.3:c.10234G>A XP_011512986.1:p.Ala3412Thr
XM_011514690.3:c.5020G>A XP_011512992.1:p.Ala1674Thr
XM_011514691.3:c.5020G>A XP_011512993.1:p.Ala1674Thr
XM_017010944.2:c.10945G>A XP_016866433.1:p.Ala3649Thr
XM_017010945.2:c.10870G>A XP_016866434.1:p.Ala3624Thr
XM_017010946.2:c.10750G>A XP_016866435.1:p.Ala3584Thr
XM_017010947.2:c.10681G>A XP_016866436.1:p.Ala3561Thr
XM_017010948.2:c.10234G>A XP_016866437.1:p.Ala3412Thr
XM_017010949.2:c.9085G>A XP_016866438.1:p.Ala3029Thr
XR_001743469.1:n.11221G>A
XR_001744157.1:n.3145+6808C>T
XR_926870.2:n.3145+6808C>T
XR_926871.2:n.3013+6808C>T
XR_926872.2:n.3145+6808C>T
NM_138694.4:c.10945G>A MANE Select NP_619639.3:p.Ala3649Thr