Canonical Allele Identifier: CA246494

Gene: PKHD1

Linked Data

• ClinVar Variation Id: 198015
• ClinVar RCV Id: RCV000179215 ; RCV001083480
• dbSNP Id: rs183674012
• ExAC: 6:51613051 A / G
• gnomAD v2: 6-51613051-A-G
• gnomAD v3: 6-51748253-A-G
• gnomAD v4: 6-51748253-A-G
• MyVariant Identifiers: chr6:g.51613051A>G (hg19) ; chr6:g.51748253A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.51748253A>G , CM000668.2:g.51748253A>G	GRCh38
NC_000006.11:g.51613051A>G , CM000668.1:g.51613051A>G	GRCh37
NC_000006.10:g.51721010A>G	NCBI36
NG_008753.1:g.344373T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000371117.8:c.9363T>C MANE Select	ENSP00000360158.3:p.Asn3121=
ENST00000340994.4:c.9363T>C	ENSP00000341097.4:p.Asn3121=
ENST00000371117.7:c.9363T>C	ENSP00000360158.3:p.Asn3121=
NM_138694.3:c.9363T>C	NP_619639.3:p.Asn3121=
NM_170724.2:c.9363T>C	NP_733842.2:p.Asn3121=
XM_011514679.1:c.9363T>C	XP_011512981.1:p.Asn3121=
XM_011514680.1:c.9363T>C	XP_011512982.1:p.Asn3121=
XM_011514681.1:c.9234T>C	XP_011512983.1:p.Asn3078=
XM_011514682.1:c.9225T>C	XP_011512984.1:p.Asn3075=
XM_011514683.1:c.8721T>C	XP_011512985.1:p.Asn2907=
XM_011514684.1:c.8652T>C	XP_011512986.1:p.Asn2884=
XM_011514685.1:c.9363T>C	XP_011512987.1:p.Asn3121=
XM_011514686.1:c.9363T>C	XP_011512988.1:p.Asn3121=
XM_011514687.1:c.9363T>C	XP_011512989.1:p.Asn3121=
XM_011514688.1:c.9363T>C	XP_011512990.1:p.Asn3121=
XM_011514690.1:c.3438T>C	XP_011512992.1:p.Asn1146=
XM_011514691.1:c.3438T>C	XP_011512993.1:p.Asn1146=
XM_011514680.3:c.9363T>C	XP_011512982.1:p.Asn3121=
XM_011514682.3:c.9225T>C	XP_011512984.1:p.Asn3075=
XM_011514683.3:c.8721T>C	XP_011512985.1:p.Asn2907=
XM_011514684.3:c.8652T>C	XP_011512986.1:p.Asn2884=
XM_011514686.2:c.9363T>C	XP_011512988.1:p.Asn3121=
XM_011514688.2:c.9363T>C	XP_011512990.1:p.Asn3121=
XM_011514690.3:c.3438T>C	XP_011512992.1:p.Asn1146=
XM_011514691.3:c.3438T>C	XP_011512993.1:p.Asn1146=
XM_017010944.2:c.9363T>C	XP_016866433.1:p.Asn3121=
XM_017010945.2:c.9288T>C	XP_016866434.1:p.Asn3096=
XM_017010946.2:c.9168T>C	XP_016866435.1:p.Asn3056=
XM_017010947.2:c.9099T>C	XP_016866436.1:p.Asn3033=
XM_017010948.2:c.8652T>C	XP_016866437.1:p.Asn2884=
XM_017010949.2:c.7503T>C	XP_016866438.1:p.Asn2501=
XM_017010950.1:c.9363T>C	XP_016866439.1:p.Asn3121=
XR_001743469.1:n.9639T>C
NM_138694.4:c.9363T>C MANE Select	NP_619639.3:p.Asn3121=
NM_170724.3:c.9363T>C	NP_733842.2:p.Asn3121=