Canonical Allele Identifier: CA3851390

Gene: PKHD1

Linked Data

• ClinVar Variation Id: 2894541
• ClinVar RCV Id: RCV003611997
• dbSNP Id: rs529459722
• ExAC: 6:51612982 G / T
• gnomAD v2: 6-51612982-G-T
• gnomAD v3: 6-51748184-G-T
• gnomAD v4: 6-51748184-G-T
• MyVariant Identifiers: chr6:g.51612982G>T (hg19) ; chr6:g.51748184G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.51748184G>T , CM000668.2:g.51748184G>T	GRCh38
NC_000006.11:g.51612982G>T , CM000668.1:g.51612982G>T	GRCh37
NC_000006.10:g.51720941G>T	NCBI36
NG_008753.1:g.344442C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000371117.8:c.9432C>A MANE Select	ENSP00000360158.3:p.Ile3144=
ENST00000340994.4:c.9432C>A	ENSP00000341097.4:p.Ile3144=
ENST00000371117.7:c.9432C>A	ENSP00000360158.3:p.Ile3144=
NM_138694.3:c.9432C>A	NP_619639.3:p.Ile3144=
NM_170724.2:c.9432C>A	NP_733842.2:p.Ile3144=
XM_011514679.1:c.9432C>A	XP_011512981.1:p.Ile3144=
XM_011514680.1:c.9432C>A	XP_011512982.1:p.Ile3144=
XM_011514681.1:c.9303C>A	XP_011512983.1:p.Ile3101=
XM_011514682.1:c.9294C>A	XP_011512984.1:p.Ile3098=
XM_011514683.1:c.8790C>A	XP_011512985.1:p.Ile2930=
XM_011514684.1:c.8721C>A	XP_011512986.1:p.Ile2907=
XM_011514685.1:c.9432C>A	XP_011512987.1:p.Ile3144=
XM_011514686.1:c.9432C>A	XP_011512988.1:p.Ile3144=
XM_011514687.1:c.9432C>A	XP_011512989.1:p.Ile3144=
XM_011514688.1:c.9432C>A	XP_011512990.1:p.Ile3144=
XM_011514690.1:c.3507C>A	XP_011512992.1:p.Ile1169=
XM_011514691.1:c.3507C>A	XP_011512993.1:p.Ile1169=
XM_011514680.3:c.9432C>A	XP_011512982.1:p.Ile3144=
XM_011514682.3:c.9294C>A	XP_011512984.1:p.Ile3098=
XM_011514683.3:c.8790C>A	XP_011512985.1:p.Ile2930=
XM_011514684.3:c.8721C>A	XP_011512986.1:p.Ile2907=
XM_011514686.2:c.9432C>A	XP_011512988.1:p.Ile3144=
XM_011514688.2:c.9432C>A	XP_011512990.1:p.Ile3144=
XM_011514690.3:c.3507C>A	XP_011512992.1:p.Ile1169=
XM_011514691.3:c.3507C>A	XP_011512993.1:p.Ile1169=
XM_017010944.2:c.9432C>A	XP_016866433.1:p.Ile3144=
XM_017010945.2:c.9357C>A	XP_016866434.1:p.Ile3119=
XM_017010946.2:c.9237C>A	XP_016866435.1:p.Ile3079=
XM_017010947.2:c.9168C>A	XP_016866436.1:p.Ile3056=
XM_017010948.2:c.8721C>A	XP_016866437.1:p.Ile2907=
XM_017010949.2:c.7572C>A	XP_016866438.1:p.Ile2524=
XM_017010950.1:c.9432C>A	XP_016866439.1:p.Ile3144=
XR_001743469.1:n.9708C>A
NM_138694.4:c.9432C>A MANE Select	NP_619639.3:p.Ile3144=
NM_170724.3:c.9432C>A	NP_733842.2:p.Ile3144=