Canonical Allele Identifier: CA3850796

Gene: PKHD1

Linked Data

• ClinVar Variation Id: 496514
• ClinVar RCV Id: RCV000586413 ; RCV001162834 ; RCV001555004
• dbSNP Id: rs201478327
• ExAC: 6:51497532 G / A
• gnomAD v2: 6-51497532-G-A
• gnomAD v3: 6-51632734-G-A
• gnomAD v4: 6-51632734-G-A
• MyVariant Identifiers: chr6:g.51497532G>A (hg19) ; chr6:g.51497532_51497533delinsAA (hg19) ; chr6:g.51632734G>A (hg38) ; chr6:g.51632734_51632735delinsAA (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.51632734G>A , CM000668.2:g.51632734G>A	GRCh38
NC_000006.11:g.51497532G>A , CM000668.1:g.51497532G>A	GRCh37
NC_000006.10:g.51605491G>A	NCBI36
NG_008753.1:g.459892C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000371117.8:c.11507-11C>T MANE Select	ENSP00000360158.3:n.11507-11C>T
ENST00000371117.7:c.11507-11C>T	ENSP00000360158.3:n.11507-11C>T
NM_138694.3:c.11507-11C>T	NP_619639.3:n.11507-11C>T
XM_011514679.1:c.11507-11C>T	XP_011512981.1:n.11507-11C>T
XM_011514680.1:c.11507-11C>T	XP_011512982.1:n.11507-11C>T
XM_011514681.1:c.11378-11C>T	XP_011512983.1:n.11378-11C>T
XM_011514682.1:c.11369-11C>T	XP_011512984.1:n.11369-11C>T
XM_011514683.1:c.10865-11C>T	XP_011512985.1:n.10865-11C>T
XM_011514684.1:c.10796-11C>T	XP_011512986.1:n.10796-11C>T
XM_011514690.1:c.5582-11C>T	XP_011512992.1:n.5582-11C>T
XM_011514691.1:c.5582-11C>T	XP_011512993.1:n.5582-11C>T
XM_011514680.3:c.11507-11C>T	XP_011512982.1:n.11507-11C>T
XM_011514682.3:c.11369-11C>T	XP_011512984.1:n.11369-11C>T
XM_011514683.3:c.10865-11C>T	XP_011512985.1:n.10865-11C>T
XM_011514684.3:c.10796-11C>T	XP_011512986.1:n.10796-11C>T
XM_011514690.3:c.5582-11C>T	XP_011512992.1:n.5582-11C>T
XM_011514691.3:c.5582-11C>T	XP_011512993.1:n.5582-11C>T
XM_017010944.2:c.11507-11C>T	XP_016866433.1:n.11507-11C>T
XM_017010945.2:c.11432-11C>T	XP_016866434.1:n.11432-11C>T
XM_017010946.2:c.11312-11C>T	XP_016866435.1:n.11312-11C>T
XM_017010947.2:c.11243-11C>T	XP_016866436.1:n.11243-11C>T
XM_017010948.2:c.10796-11C>T	XP_016866437.1:n.10796-11C>T
XM_017010949.2:c.9647-11C>T	XP_016866438.1:n.9647-11C>T
NM_138694.4:c.11507-11C>T MANE Select	NP_619639.3:n.11507-11C>T