Canonical Allele Identifier: CA3851057

Gene: PKHD1

Linked Data

• dbSNP Id: rs112030234
• ExAC: 6:51524393 C / A
• gnomAD v2: 6-51524393-C-A
• gnomAD v4: 6-51659595-C-A
• MyVariant Identifiers: chr6:g.51524393C>A (hg19) ; chr6:g.51659595C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.51659595C>A , CM000668.2:g.51659595C>A	GRCh38
NC_000006.11:g.51524393C>A , CM000668.1:g.51524393C>A	GRCh37
NC_000006.10:g.51632352C>A	NCBI36
NG_008753.1:g.433031G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000371117.8:c.10531G>T MANE Select	ENSP00000360158.3:p.Gly3511Trp
ENST00000371117.7:c.10531G>T	ENSP00000360158.3:p.Gly3511Trp
NM_138694.3:c.10531G>T	NP_619639.3:p.Gly3511Trp
XM_011514679.1:c.10531G>T	XP_011512981.1:p.Gly3511Trp
XM_011514680.1:c.10531G>T	XP_011512982.1:p.Gly3511Trp
XM_011514681.1:c.10402G>T	XP_011512983.1:p.Gly3468Trp
XM_011514682.1:c.10393G>T	XP_011512984.1:p.Gly3465Trp
XM_011514683.1:c.9889G>T	XP_011512985.1:p.Gly3297Trp
XM_011514684.1:c.9820G>T	XP_011512986.1:p.Gly3274Trp
XM_011514687.1:c.10157-10375G>T	XP_011512989.1:n.10157-10375G>T
XM_011514690.1:c.4606G>T	XP_011512992.1:p.Gly1536Trp
XM_011514691.1:c.4606G>T	XP_011512993.1:p.Gly1536Trp
XR_926870.1:n.535+7222C>A
XR_926871.1:n.403+7222C>A
XR_926872.1:n.535+7222C>A
XM_011514680.3:c.10531G>T	XP_011512982.1:p.Gly3511Trp
XM_011514682.3:c.10393G>T	XP_011512984.1:p.Gly3465Trp
XM_011514683.3:c.9889G>T	XP_011512985.1:p.Gly3297Trp
XM_011514684.3:c.9820G>T	XP_011512986.1:p.Gly3274Trp
XM_011514690.3:c.4606G>T	XP_011512992.1:p.Gly1536Trp
XM_011514691.3:c.4606G>T	XP_011512993.1:p.Gly1536Trp
XM_017010944.2:c.10531G>T	XP_016866433.1:p.Gly3511Trp
XM_017010945.2:c.10456G>T	XP_016866434.1:p.Gly3486Trp
XM_017010946.2:c.10336G>T	XP_016866435.1:p.Gly3446Trp
XM_017010947.2:c.10267G>T	XP_016866436.1:p.Gly3423Trp
XM_017010948.2:c.9820G>T	XP_016866437.1:p.Gly3274Trp
XM_017010949.2:c.8671G>T	XP_016866438.1:p.Gly2891Trp
XR_001743469.1:n.10807G>T
XR_001744157.1:n.3145+7222C>A
XR_926870.2:n.3145+7222C>A
XR_926871.2:n.3013+7222C>A
XR_926872.2:n.3145+7222C>A
NM_138694.4:c.10531G>T MANE Select	NP_619639.3:p.Gly3511Trp