Canonical Allele Identifier: CA3851471

Gene: PKHD1

Linked Data

• ClinVar Variation Id: 1620903
• ClinVar RCV Id: RCV002091766 ; RCV002500140
• dbSNP Id: rs200025399
• ExAC: 6:51613482 C / T
• gnomAD v2: 6-51613482-C-T
• gnomAD v3: 6-51748684-C-T
• gnomAD v4: 6-51748684-C-T
• MyVariant Identifiers: chr6:g.51613482C>T (hg19) ; chr6:g.51748684C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.51748684C>T , CM000668.2:g.51748684C>T	GRCh38
NC_000006.11:g.51613482C>T , CM000668.1:g.51613482C>T	GRCh37
NC_000006.10:g.51721441C>T	NCBI36
NG_008753.1:g.343942G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000371117.8:c.8951-19G>A MANE Select	ENSP00000360158.3:n.8951-19G>A
ENST00000340994.4:c.8951-19G>A	ENSP00000341097.4:n.8951-19G>A
ENST00000371117.7:c.8951-19G>A	ENSP00000360158.3:n.8951-19G>A
NM_138694.3:c.8951-19G>A	NP_619639.3:n.8951-19G>A
NM_170724.2:c.8951-19G>A	NP_733842.2:n.8951-19G>A
XM_011514679.1:c.8951-19G>A	XP_011512981.1:n.8951-19G>A
XM_011514680.1:c.8951-19G>A	XP_011512982.1:n.8951-19G>A
XM_011514681.1:c.8822-19G>A	XP_011512983.1:n.8822-19G>A
XM_011514682.1:c.8813-19G>A	XP_011512984.1:n.8813-19G>A
XM_011514683.1:c.8309-19G>A	XP_011512985.1:n.8309-19G>A
XM_011514684.1:c.8240-19G>A	XP_011512986.1:n.8240-19G>A
XM_011514685.1:c.8951-19G>A	XP_011512987.1:n.8951-19G>A
XM_011514686.1:c.8951-19G>A	XP_011512988.1:n.8951-19G>A
XM_011514687.1:c.8951-19G>A	XP_011512989.1:n.8951-19G>A
XM_011514688.1:c.8951-19G>A	XP_011512990.1:n.8951-19G>A
XM_011514690.1:c.3026-19G>A	XP_011512992.1:n.3026-19G>A
XM_011514691.1:c.3026-19G>A	XP_011512993.1:n.3026-19G>A
XM_011514680.3:c.8951-19G>A	XP_011512982.1:n.8951-19G>A
XM_011514682.3:c.8813-19G>A	XP_011512984.1:n.8813-19G>A
XM_011514683.3:c.8309-19G>A	XP_011512985.1:n.8309-19G>A
XM_011514684.3:c.8240-19G>A	XP_011512986.1:n.8240-19G>A
XM_011514686.2:c.8951-19G>A	XP_011512988.1:n.8951-19G>A
XM_011514688.2:c.8951-19G>A	XP_011512990.1:n.8951-19G>A
XM_011514690.3:c.3026-19G>A	XP_011512992.1:n.3026-19G>A
XM_011514691.3:c.3026-19G>A	XP_011512993.1:n.3026-19G>A
XM_017010944.2:c.8951-19G>A	XP_016866433.1:n.8951-19G>A
XM_017010945.2:c.8876-19G>A	XP_016866434.1:n.8876-19G>A
XM_017010946.2:c.8756-19G>A	XP_016866435.1:n.8756-19G>A
XM_017010947.2:c.8687-19G>A	XP_016866436.1:n.8687-19G>A
XM_017010948.2:c.8240-19G>A	XP_016866437.1:n.8240-19G>A
XM_017010949.2:c.7091-19G>A	XP_016866438.1:n.7091-19G>A
XM_017010950.1:c.8951-19G>A	XP_016866439.1:n.8951-19G>A
XR_001743469.1:n.9227-19G>A
NM_138694.4:c.8951-19G>A MANE Select	NP_619639.3:n.8951-19G>A
NM_170724.3:c.8951-19G>A	NP_733842.2:n.8951-19G>A