Canonical Allele Identifier: CA3850730

Gene: PKHD1

Linked Data

• dbSNP Id: rs538091484
• ExAC: 6:51491877 A / T
• gnomAD v2: 6-51491877-A-T
• gnomAD v3: 6-51627079-A-T
• gnomAD v4: 6-51627079-A-T
• MyVariant Identifiers: chr6:g.51491877A>T (hg19) ; chr6:g.51627079A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.51627079A>T , CM000668.2:g.51627079A>T	GRCh38
NC_000006.11:g.51491877A>T , CM000668.1:g.51491877A>T	GRCh37
NC_000006.10:g.51599836A>T	NCBI36
NG_008753.1:g.465547T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000371117.8:c.11703T>A MANE Select	ENSP00000360158.3:p.Asn3901Lys
ENST00000371117.7:c.11703T>A	ENSP00000360158.3:p.Asn3901Lys
NM_138694.3:c.11703T>A	NP_619639.3:p.Asn3901Lys
XM_011514679.1:c.11703T>A	XP_011512981.1:p.Asn3901Lys
XM_011514680.1:c.11703T>A	XP_011512982.1:p.Asn3901Lys
XM_011514681.1:c.11574T>A	XP_011512983.1:p.Asn3858Lys
XM_011514682.1:c.11565T>A	XP_011512984.1:p.Asn3855Lys
XM_011514683.1:c.11061T>A	XP_011512985.1:p.Asn3687Lys
XM_011514684.1:c.10992T>A	XP_011512986.1:p.Asn3664Lys
XM_011514690.1:c.5778T>A	XP_011512992.1:p.Asn1926Lys
XM_011514691.1:c.5778T>A	XP_011512993.1:p.Asn1926Lys
XM_011514680.3:c.11703T>A	XP_011512982.1:p.Asn3901Lys
XM_011514682.3:c.11565T>A	XP_011512984.1:p.Asn3855Lys
XM_011514683.3:c.11061T>A	XP_011512985.1:p.Asn3687Lys
XM_011514684.3:c.10992T>A	XP_011512986.1:p.Asn3664Lys
XM_011514690.3:c.5778T>A	XP_011512992.1:p.Asn1926Lys
XM_011514691.3:c.5778T>A	XP_011512993.1:p.Asn1926Lys
XM_017010944.2:c.11703T>A	XP_016866433.1:p.Asn3901Lys
XM_017010945.2:c.11628T>A	XP_016866434.1:p.Asn3876Lys
XM_017010946.2:c.11508T>A	XP_016866435.1:p.Asn3836Lys
XM_017010947.2:c.11439T>A	XP_016866436.1:p.Asn3813Lys
XM_017010948.2:c.10992T>A	XP_016866437.1:p.Asn3664Lys
XM_017010949.2:c.9843T>A	XP_016866438.1:p.Asn3281Lys
NM_138694.4:c.11703T>A MANE Select	NP_619639.3:p.Asn3901Lys