Canonical Allele Identifier: CA364431293

Gene: PKHD1

Linked Data

• MyVariant Identifiers: chr6:g.51524009G>C (hg19) ; chr6:g.51659211G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.51659211G>C , CM000668.2:g.51659211G>C	GRCh38
NC_000006.11:g.51524009G>C , CM000668.1:g.51524009G>C	GRCh37
NC_000006.10:g.51631968G>C	NCBI36
NG_008753.1:g.433415C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000371117.8:c.10915C>G MANE Select	ENSP00000360158.3:p.Pro3639Ala
ENST00000371117.7:c.10915C>G	ENSP00000360158.3:p.Pro3639Ala
NM_138694.3:c.10915C>G	NP_619639.3:p.Pro3639Ala
XM_011514679.1:c.10915C>G	XP_011512981.1:p.Pro3639Ala
XM_011514680.1:c.10915C>G	XP_011512982.1:p.Pro3639Ala
XM_011514681.1:c.10786C>G	XP_011512983.1:p.Pro3596Ala
XM_011514682.1:c.10777C>G	XP_011512984.1:p.Pro3593Ala
XM_011514683.1:c.10273C>G	XP_011512985.1:p.Pro3425Ala
XM_011514684.1:c.10204C>G	XP_011512986.1:p.Pro3402Ala
XM_011514687.1:c.10157-9991C>G	XP_011512989.1:n.10157-9991C>G
XM_011514690.1:c.4990C>G	XP_011512992.1:p.Pro1664Ala
XM_011514691.1:c.4990C>G	XP_011512993.1:p.Pro1664Ala
XR_926870.1:n.535+6838G>C
XR_926871.1:n.403+6838G>C
XR_926872.1:n.535+6838G>C
XM_011514680.3:c.10915C>G	XP_011512982.1:p.Pro3639Ala
XM_011514682.3:c.10777C>G	XP_011512984.1:p.Pro3593Ala
XM_011514683.3:c.10273C>G	XP_011512985.1:p.Pro3425Ala
XM_011514684.3:c.10204C>G	XP_011512986.1:p.Pro3402Ala
XM_011514690.3:c.4990C>G	XP_011512992.1:p.Pro1664Ala
XM_011514691.3:c.4990C>G	XP_011512993.1:p.Pro1664Ala
XM_017010944.2:c.10915C>G	XP_016866433.1:p.Pro3639Ala
XM_017010945.2:c.10840C>G	XP_016866434.1:p.Pro3614Ala
XM_017010946.2:c.10720C>G	XP_016866435.1:p.Pro3574Ala
XM_017010947.2:c.10651C>G	XP_016866436.1:p.Pro3551Ala
XM_017010948.2:c.10204C>G	XP_016866437.1:p.Pro3402Ala
XM_017010949.2:c.9055C>G	XP_016866438.1:p.Pro3019Ala
XR_001743469.1:n.11191C>G
XR_001744157.1:n.3145+6838G>C
XR_926870.2:n.3145+6838G>C
XR_926871.2:n.3013+6838G>C
XR_926872.2:n.3145+6838G>C
NM_138694.4:c.10915C>G MANE Select	NP_619639.3:p.Pro3639Ala