Canonical Allele Identifier: CA180301

Gene: PKHD1

Linked Data

• ClinVar Variation Id: 167479
• ClinVar RCV Id: RCV000153707 ; RCV000169053 ; RCV001292335 ; RCV001449939 ; RCV001706025
• dbSNP Id: rs45503297
• ExAC: 6:51612999 C / A
• gnomAD v2: 6-51612999-C-A
• gnomAD v3: 6-51748201-C-A
• gnomAD v4: 6-51748201-C-A
• MyVariant Identifiers: chr6:g.51612999C>A (hg19) ; chr6:g.51748201C>A (hg38)
• PubMed: PMID:11898128 ; PMID:11919560 ; PMID:12846734 ; PMID:12874454 ; PMID:15108281 ; PMID:15698423 ; PMID:15805161 ; PMID:16133180 ; PMID:19914852 ; PMID:23891399

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.51748201C>A , CM000668.2:g.51748201C>A	GRCh38
NC_000006.11:g.51612999C>A , CM000668.1:g.51612999C>A	GRCh37
NC_000006.10:g.51720958C>A	NCBI36
NG_008753.1:g.344425G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000371117.8:c.9415G>T MANE Select	ENSP00000360158.3:p.Asp3139Tyr
ENST00000340994.4:c.9415G>T	ENSP00000341097.4:p.Asp3139Tyr
ENST00000371117.7:c.9415G>T	ENSP00000360158.3:p.Asp3139Tyr
NM_138694.3:c.9415G>T	NP_619639.3:p.Asp3139Tyr
NM_170724.2:c.9415G>T	NP_733842.2:p.Asp3139Tyr
XM_011514679.1:c.9415G>T	XP_011512981.1:p.Asp3139Tyr
XM_011514680.1:c.9415G>T	XP_011512982.1:p.Asp3139Tyr
XM_011514681.1:c.9286G>T	XP_011512983.1:p.Asp3096Tyr
XM_011514682.1:c.9277G>T	XP_011512984.1:p.Asp3093Tyr
XM_011514683.1:c.8773G>T	XP_011512985.1:p.Asp2925Tyr
XM_011514684.1:c.8704G>T	XP_011512986.1:p.Asp2902Tyr
XM_011514685.1:c.9415G>T	XP_011512987.1:p.Asp3139Tyr
XM_011514686.1:c.9415G>T	XP_011512988.1:p.Asp3139Tyr
XM_011514687.1:c.9415G>T	XP_011512989.1:p.Asp3139Tyr
XM_011514688.1:c.9415G>T	XP_011512990.1:p.Asp3139Tyr
XM_011514690.1:c.3490G>T	XP_011512992.1:p.Asp1164Tyr
XM_011514691.1:c.3490G>T	XP_011512993.1:p.Asp1164Tyr
XM_011514680.3:c.9415G>T	XP_011512982.1:p.Asp3139Tyr
XM_011514682.3:c.9277G>T	XP_011512984.1:p.Asp3093Tyr
XM_011514683.3:c.8773G>T	XP_011512985.1:p.Asp2925Tyr
XM_011514684.3:c.8704G>T	XP_011512986.1:p.Asp2902Tyr
XM_011514686.2:c.9415G>T	XP_011512988.1:p.Asp3139Tyr
XM_011514688.2:c.9415G>T	XP_011512990.1:p.Asp3139Tyr
XM_011514690.3:c.3490G>T	XP_011512992.1:p.Asp1164Tyr
XM_011514691.3:c.3490G>T	XP_011512993.1:p.Asp1164Tyr
XM_017010944.2:c.9415G>T	XP_016866433.1:p.Asp3139Tyr
XM_017010945.2:c.9340G>T	XP_016866434.1:p.Asp3114Tyr
XM_017010946.2:c.9220G>T	XP_016866435.1:p.Asp3074Tyr
XM_017010947.2:c.9151G>T	XP_016866436.1:p.Asp3051Tyr
XM_017010948.2:c.8704G>T	XP_016866437.1:p.Asp2902Tyr
XM_017010949.2:c.7555G>T	XP_016866438.1:p.Asp2519Tyr
XM_017010950.1:c.9415G>T	XP_016866439.1:p.Asp3139Tyr
XR_001743469.1:n.9691G>T
NM_138694.4:c.9415G>T MANE Select	NP_619639.3:p.Asp3139Tyr
NM_170724.3:c.9415G>T	NP_733842.2:p.Asp3139Tyr