Canonical Allele Identifier: CA3852703

Gene: PKHD1

Linked Data

• ClinVar Variation Id: 598212
• ClinVar RCV Id: RCV001449925
• dbSNP Id: rs200278368
• ExAC: 6:51890061 G / A
• gnomAD v2: 6-51890061-G-A
• gnomAD v3: 6-52025263-G-A
• gnomAD v4: 6-52025263-G-A
• MyVariant Identifiers: chr6:g.51890061G>A (hg19) ; chr6:g.52025263G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.52025263G>A , CM000668.2:g.52025263G>A	GRCh38
NC_000006.11:g.51890061G>A , CM000668.1:g.51890061G>A	GRCh37
NC_000006.10:g.51998020G>A	NCBI36
NG_008753.1:g.67363C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000371117.8:c.4547C>T MANE Select	ENSP00000360158.3:p.Pro1516Leu
ENST00000340994.4:c.4547C>T	ENSP00000341097.4:p.Pro1516Leu
ENST00000371117.7:c.4547C>T	ENSP00000360158.3:p.Pro1516Leu
NM_138694.3:c.4547C>T	NP_619639.3:p.Pro1516Leu
NM_170724.2:c.4547C>T	NP_733842.2:p.Pro1516Leu
XM_011514679.1:c.4547C>T	XP_011512981.1:p.Pro1516Leu
XM_011514680.1:c.4547C>T	XP_011512982.1:p.Pro1516Leu
XM_011514681.1:c.4547C>T	XP_011512983.1:p.Pro1516Leu
XM_011514682.1:c.4547C>T	XP_011512984.1:p.Pro1516Leu
XM_011514683.1:c.4102-197C>T	XP_011512985.1:n.4102-197C>T
XM_011514684.1:c.3836C>T	XP_011512986.1:p.Pro1279Leu
XM_011514685.1:c.4547C>T	XP_011512987.1:p.Pro1516Leu
XM_011514686.1:c.4547C>T	XP_011512988.1:p.Pro1516Leu
XM_011514687.1:c.4547C>T	XP_011512989.1:p.Pro1516Leu
XM_011514688.1:c.4547C>T	XP_011512990.1:p.Pro1516Leu
XM_011514689.1:c.4547C>T	XP_011512991.1:p.Pro1516Leu
XM_011514680.3:c.4547C>T	XP_011512982.1:p.Pro1516Leu
XM_011514682.3:c.4547C>T	XP_011512984.1:p.Pro1516Leu
XM_011514683.3:c.4102-197C>T	XP_011512985.1:n.4102-197C>T
XM_011514684.3:c.3836C>T	XP_011512986.1:p.Pro1279Leu
XM_011514686.2:c.4547C>T	XP_011512988.1:p.Pro1516Leu
XM_011514688.2:c.4547C>T	XP_011512990.1:p.Pro1516Leu
XM_017010944.2:c.4547C>T	XP_016866433.1:p.Pro1516Leu
XM_017010945.2:c.4472C>T	XP_016866434.1:p.Pro1491Leu
XM_017010946.2:c.4547C>T	XP_016866435.1:p.Pro1516Leu
XM_017010947.2:c.4283C>T	XP_016866436.1:p.Pro1428Leu
XM_017010948.2:c.3836C>T	XP_016866437.1:p.Pro1279Leu
XM_017010949.2:c.2687C>T	XP_016866438.1:p.Pro896Leu
XM_017010950.1:c.4547C>T	XP_016866439.1:p.Pro1516Leu
XM_017010951.1:c.4547C>T	XP_016866440.1:p.Pro1516Leu
XM_017010952.1:c.4547C>T	XP_016866441.1:p.Pro1516Leu
XR_001743469.1:n.4823C>T
NM_138694.4:c.4547C>T MANE Select	NP_619639.3:p.Pro1516Leu
NM_170724.3:c.4547C>T	NP_733842.2:p.Pro1516Leu