Canonical Allele Identifier: CA3851370

Gene: PKHD1

Linked Data

• dbSNP Id: rs764109644
• ExAC: 6:51612851 G / A
• gnomAD v2: 6-51612851-G-A
• gnomAD v3: 6-51748053-G-A
• gnomAD v4: 6-51748053-G-A
• MyVariant Identifiers: chr6:g.51612851G>A (hg19) ; chr6:g.51748053G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.51748053G>A , CM000668.2:g.51748053G>A	GRCh38
NC_000006.11:g.51612851G>A , CM000668.1:g.51612851G>A	GRCh37
NC_000006.10:g.51720810G>A	NCBI36
NG_008753.1:g.344573C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000371117.8:c.9563C>T MANE Select	ENSP00000360158.3:p.Ala3188Val
ENST00000340994.4:c.9563C>T	ENSP00000341097.4:p.Ala3188Val
ENST00000371117.7:c.9563C>T	ENSP00000360158.3:p.Ala3188Val
NM_138694.3:c.9563C>T	NP_619639.3:p.Ala3188Val
NM_170724.2:c.9563C>T	NP_733842.2:p.Ala3188Val
XM_011514679.1:c.9563C>T	XP_011512981.1:p.Ala3188Val
XM_011514680.1:c.9563C>T	XP_011512982.1:p.Ala3188Val
XM_011514681.1:c.9434C>T	XP_011512983.1:p.Ala3145Val
XM_011514682.1:c.9425C>T	XP_011512984.1:p.Ala3142Val
XM_011514683.1:c.8921C>T	XP_011512985.1:p.Ala2974Val
XM_011514684.1:c.8852C>T	XP_011512986.1:p.Ala2951Val
XM_011514685.1:c.9563C>T	XP_011512987.1:p.Ala3188Val
XM_011514686.1:c.9563C>T	XP_011512988.1:p.Ala3188Val
XM_011514687.1:c.9563C>T	XP_011512989.1:p.Ala3188Val
XM_011514688.1:c.9563C>T	XP_011512990.1:p.Ala3188Val
XM_011514690.1:c.3638C>T	XP_011512992.1:p.Ala1213Val
XM_011514691.1:c.3638C>T	XP_011512993.1:p.Ala1213Val
XM_011514680.3:c.9563C>T	XP_011512982.1:p.Ala3188Val
XM_011514682.3:c.9425C>T	XP_011512984.1:p.Ala3142Val
XM_011514683.3:c.8921C>T	XP_011512985.1:p.Ala2974Val
XM_011514684.3:c.8852C>T	XP_011512986.1:p.Ala2951Val
XM_011514686.2:c.9563C>T	XP_011512988.1:p.Ala3188Val
XM_011514688.2:c.9563C>T	XP_011512990.1:p.Ala3188Val
XM_011514690.3:c.3638C>T	XP_011512992.1:p.Ala1213Val
XM_011514691.3:c.3638C>T	XP_011512993.1:p.Ala1213Val
XM_017010944.2:c.9563C>T	XP_016866433.1:p.Ala3188Val
XM_017010945.2:c.9488C>T	XP_016866434.1:p.Ala3163Val
XM_017010946.2:c.9368C>T	XP_016866435.1:p.Ala3123Val
XM_017010947.2:c.9299C>T	XP_016866436.1:p.Ala3100Val
XM_017010948.2:c.8852C>T	XP_016866437.1:p.Ala2951Val
XM_017010949.2:c.7703C>T	XP_016866438.1:p.Ala2568Val
XM_017010950.1:c.9563C>T	XP_016866439.1:p.Ala3188Val
XR_001743469.1:n.9839C>T
NM_138694.4:c.9563C>T MANE Select	NP_619639.3:p.Ala3188Val
NM_170724.3:c.9563C>T	NP_733842.2:p.Ala3188Val