Canonical Allele Identifier: CA149537

Gene: PKHD1

Linked Data

• ClinVar Variation Id: 96443
• ClinVar RCV Id: RCV000082593 ; RCV000169283 ; RCV001705805
• dbSNP Id: rs17752991
• ExAC: 6:51612922 G / A
• gnomAD v2: 6-51612922-G-A
• gnomAD v3: 6-51748124-G-A
• gnomAD v4: 6-51748124-G-A
• MyVariant Identifiers: chr6:g.51612922G>A (hg19) ; chr6:g.51748124G>A (hg38)
• PubMed: PMID:12874454 ; PMID:15108277 ; PMID:15698423

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.51748124G>A , CM000668.2:g.51748124G>A	GRCh38
NC_000006.11:g.51612922G>A , CM000668.1:g.51612922G>A	GRCh37
NC_000006.10:g.51720881G>A	NCBI36
NG_008753.1:g.344502C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000371117.8:c.9492C>T MANE Select	ENSP00000360158.3:p.Ser3164=
ENST00000340994.4:c.9492C>T	ENSP00000341097.4:p.Ser3164=
ENST00000371117.7:c.9492C>T	ENSP00000360158.3:p.Ser3164=
NM_138694.3:c.9492C>T	NP_619639.3:p.Ser3164=
NM_170724.2:c.9492C>T	NP_733842.2:p.Ser3164=
XM_011514679.1:c.9492C>T	XP_011512981.1:p.Ser3164=
XM_011514680.1:c.9492C>T	XP_011512982.1:p.Ser3164=
XM_011514681.1:c.9363C>T	XP_011512983.1:p.Ser3121=
XM_011514682.1:c.9354C>T	XP_011512984.1:p.Ser3118=
XM_011514683.1:c.8850C>T	XP_011512985.1:p.Ser2950=
XM_011514684.1:c.8781C>T	XP_011512986.1:p.Ser2927=
XM_011514685.1:c.9492C>T	XP_011512987.1:p.Ser3164=
XM_011514686.1:c.9492C>T	XP_011512988.1:p.Ser3164=
XM_011514687.1:c.9492C>T	XP_011512989.1:p.Ser3164=
XM_011514688.1:c.9492C>T	XP_011512990.1:p.Ser3164=
XM_011514690.1:c.3567C>T	XP_011512992.1:p.Ser1189=
XM_011514691.1:c.3567C>T	XP_011512993.1:p.Ser1189=
XM_011514680.3:c.9492C>T	XP_011512982.1:p.Ser3164=
XM_011514682.3:c.9354C>T	XP_011512984.1:p.Ser3118=
XM_011514683.3:c.8850C>T	XP_011512985.1:p.Ser2950=
XM_011514684.3:c.8781C>T	XP_011512986.1:p.Ser2927=
XM_011514686.2:c.9492C>T	XP_011512988.1:p.Ser3164=
XM_011514688.2:c.9492C>T	XP_011512990.1:p.Ser3164=
XM_011514690.3:c.3567C>T	XP_011512992.1:p.Ser1189=
XM_011514691.3:c.3567C>T	XP_011512993.1:p.Ser1189=
XM_017010944.2:c.9492C>T	XP_016866433.1:p.Ser3164=
XM_017010945.2:c.9417C>T	XP_016866434.1:p.Ser3139=
XM_017010946.2:c.9297C>T	XP_016866435.1:p.Ser3099=
XM_017010947.2:c.9228C>T	XP_016866436.1:p.Ser3076=
XM_017010948.2:c.8781C>T	XP_016866437.1:p.Ser2927=
XM_017010949.2:c.7632C>T	XP_016866438.1:p.Ser2544=
XM_017010950.1:c.9492C>T	XP_016866439.1:p.Ser3164=
XR_001743469.1:n.9768C>T
NM_138694.4:c.9492C>T MANE Select	NP_619639.3:p.Ser3164=
NM_170724.3:c.9492C>T	NP_733842.2:p.Ser3164=