Canonical Allele Identifier: CA364431053

Gene: PKHD1

Linked Data

• MyVariant Identifiers: chr6:g.51523979C>G (hg19) ; chr6:g.51659181C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.51659181C>G , CM000668.2:g.51659181C>G	GRCh38
NC_000006.11:g.51523979C>G , CM000668.1:g.51523979C>G	GRCh37
NC_000006.10:g.51631938C>G	NCBI36
NG_008753.1:g.433445G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000371117.8:c.10945G>C MANE Select	ENSP00000360158.3:p.Ala3649Pro
ENST00000371117.7:c.10945G>C	ENSP00000360158.3:p.Ala3649Pro
NM_138694.3:c.10945G>C	NP_619639.3:p.Ala3649Pro
XM_011514679.1:c.10945G>C	XP_011512981.1:p.Ala3649Pro
XM_011514680.1:c.10945G>C	XP_011512982.1:p.Ala3649Pro
XM_011514681.1:c.10816G>C	XP_011512983.1:p.Ala3606Pro
XM_011514682.1:c.10807G>C	XP_011512984.1:p.Ala3603Pro
XM_011514683.1:c.10303G>C	XP_011512985.1:p.Ala3435Pro
XM_011514684.1:c.10234G>C	XP_011512986.1:p.Ala3412Pro
XM_011514687.1:c.10157-9961G>C	XP_011512989.1:n.10157-9961G>C
XM_011514690.1:c.5020G>C	XP_011512992.1:p.Ala1674Pro
XM_011514691.1:c.5020G>C	XP_011512993.1:p.Ala1674Pro
XR_926870.1:n.535+6808C>G
XR_926871.1:n.403+6808C>G
XR_926872.1:n.535+6808C>G
XM_011514680.3:c.10945G>C	XP_011512982.1:p.Ala3649Pro
XM_011514682.3:c.10807G>C	XP_011512984.1:p.Ala3603Pro
XM_011514683.3:c.10303G>C	XP_011512985.1:p.Ala3435Pro
XM_011514684.3:c.10234G>C	XP_011512986.1:p.Ala3412Pro
XM_011514690.3:c.5020G>C	XP_011512992.1:p.Ala1674Pro
XM_011514691.3:c.5020G>C	XP_011512993.1:p.Ala1674Pro
XM_017010944.2:c.10945G>C	XP_016866433.1:p.Ala3649Pro
XM_017010945.2:c.10870G>C	XP_016866434.1:p.Ala3624Pro
XM_017010946.2:c.10750G>C	XP_016866435.1:p.Ala3584Pro
XM_017010947.2:c.10681G>C	XP_016866436.1:p.Ala3561Pro
XM_017010948.2:c.10234G>C	XP_016866437.1:p.Ala3412Pro
XM_017010949.2:c.9085G>C	XP_016866438.1:p.Ala3029Pro
XR_001743469.1:n.11221G>C
XR_001744157.1:n.3145+6808C>G
XR_926870.2:n.3145+6808C>G
XR_926871.2:n.3013+6808C>G
XR_926872.2:n.3145+6808C>G
NM_138694.4:c.10945G>C MANE Select	NP_619639.3:p.Ala3649Pro