Canonical Allele Identifier: CA3851422

Gene: PKHD1

Linked Data

• ClinVar Variation Id: 764337
• ClinVar RCV Id: RCV001401989
• dbSNP Id: rs763061534
• ExAC: 6:51613153 C / T
• gnomAD v2: 6-51613153-C-T
• gnomAD v3: 6-51748355-C-T
• gnomAD v4: 6-51748355-C-T
• MyVariant Identifiers: chr6:g.51613153C>T (hg19) ; chr6:g.51748355C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.51748355C>T , CM000668.2:g.51748355C>T	GRCh38
NC_000006.11:g.51613153C>T , CM000668.1:g.51613153C>T	GRCh37
NC_000006.10:g.51721112C>T	NCBI36
NG_008753.1:g.344271G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000371117.8:c.9261G>A MANE Select	ENSP00000360158.3:p.Lys3087=
ENST00000340994.4:c.9261G>A	ENSP00000341097.4:p.Lys3087=
ENST00000371117.7:c.9261G>A	ENSP00000360158.3:p.Lys3087=
NM_138694.3:c.9261G>A	NP_619639.3:p.Lys3087=
NM_170724.2:c.9261G>A	NP_733842.2:p.Lys3087=
XM_011514679.1:c.9261G>A	XP_011512981.1:p.Lys3087=
XM_011514680.1:c.9261G>A	XP_011512982.1:p.Lys3087=
XM_011514681.1:c.9132G>A	XP_011512983.1:p.Lys3044=
XM_011514682.1:c.9123G>A	XP_011512984.1:p.Lys3041=
XM_011514683.1:c.8619G>A	XP_011512985.1:p.Lys2873=
XM_011514684.1:c.8550G>A	XP_011512986.1:p.Lys2850=
XM_011514685.1:c.9261G>A	XP_011512987.1:p.Lys3087=
XM_011514686.1:c.9261G>A	XP_011512988.1:p.Lys3087=
XM_011514687.1:c.9261G>A	XP_011512989.1:p.Lys3087=
XM_011514688.1:c.9261G>A	XP_011512990.1:p.Lys3087=
XM_011514690.1:c.3336G>A	XP_011512992.1:p.Lys1112=
XM_011514691.1:c.3336G>A	XP_011512993.1:p.Lys1112=
XM_011514680.3:c.9261G>A	XP_011512982.1:p.Lys3087=
XM_011514682.3:c.9123G>A	XP_011512984.1:p.Lys3041=
XM_011514683.3:c.8619G>A	XP_011512985.1:p.Lys2873=
XM_011514684.3:c.8550G>A	XP_011512986.1:p.Lys2850=
XM_011514686.2:c.9261G>A	XP_011512988.1:p.Lys3087=
XM_011514688.2:c.9261G>A	XP_011512990.1:p.Lys3087=
XM_011514690.3:c.3336G>A	XP_011512992.1:p.Lys1112=
XM_011514691.3:c.3336G>A	XP_011512993.1:p.Lys1112=
XM_017010944.2:c.9261G>A	XP_016866433.1:p.Lys3087=
XM_017010945.2:c.9186G>A	XP_016866434.1:p.Lys3062=
XM_017010946.2:c.9066G>A	XP_016866435.1:p.Lys3022=
XM_017010947.2:c.8997G>A	XP_016866436.1:p.Lys2999=
XM_017010948.2:c.8550G>A	XP_016866437.1:p.Lys2850=
XM_017010949.2:c.7401G>A	XP_016866438.1:p.Lys2467=
XM_017010950.1:c.9261G>A	XP_016866439.1:p.Lys3087=
XR_001743469.1:n.9537G>A
NM_138694.4:c.9261G>A MANE Select	NP_619639.3:p.Lys3087=
NM_170724.3:c.9261G>A	NP_733842.2:p.Lys3087=