Canonical Allele Identifier: CA364434152

Gene: PKHD1

Linked Data

• dbSNP Id: rs1772481746
• gnomAD v3: 6-51659580-G-A
• gnomAD v4: 6-51659580-G-A
• COSMIC: COSM5893168
• MyVariant Identifiers: chr6:g.51524378G>A (hg19) ; chr6:g.51659580G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.51659580G>A , CM000668.2:g.51659580G>A	GRCh38
NC_000006.11:g.51524378G>A , CM000668.1:g.51524378G>A	GRCh37
NC_000006.10:g.51632337G>A	NCBI36
NG_008753.1:g.433046C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000371117.8:c.10546C>T MANE Select	ENSP00000360158.3:p.Pro3516Ser
ENST00000371117.7:c.10546C>T	ENSP00000360158.3:p.Pro3516Ser
NM_138694.3:c.10546C>T	NP_619639.3:p.Pro3516Ser
XM_011514679.1:c.10546C>T	XP_011512981.1:p.Pro3516Ser
XM_011514680.1:c.10546C>T	XP_011512982.1:p.Pro3516Ser
XM_011514681.1:c.10417C>T	XP_011512983.1:p.Pro3473Ser
XM_011514682.1:c.10408C>T	XP_011512984.1:p.Pro3470Ser
XM_011514683.1:c.9904C>T	XP_011512985.1:p.Pro3302Ser
XM_011514684.1:c.9835C>T	XP_011512986.1:p.Pro3279Ser
XM_011514687.1:c.10157-10360C>T	XP_011512989.1:n.10157-10360C>T
XM_011514690.1:c.4621C>T	XP_011512992.1:p.Pro1541Ser
XM_011514691.1:c.4621C>T	XP_011512993.1:p.Pro1541Ser
XR_926870.1:n.535+7207G>A
XR_926871.1:n.403+7207G>A
XR_926872.1:n.535+7207G>A
XM_011514680.3:c.10546C>T	XP_011512982.1:p.Pro3516Ser
XM_011514682.3:c.10408C>T	XP_011512984.1:p.Pro3470Ser
XM_011514683.3:c.9904C>T	XP_011512985.1:p.Pro3302Ser
XM_011514684.3:c.9835C>T	XP_011512986.1:p.Pro3279Ser
XM_011514690.3:c.4621C>T	XP_011512992.1:p.Pro1541Ser
XM_011514691.3:c.4621C>T	XP_011512993.1:p.Pro1541Ser
XM_017010944.2:c.10546C>T	XP_016866433.1:p.Pro3516Ser
XM_017010945.2:c.10471C>T	XP_016866434.1:p.Pro3491Ser
XM_017010946.2:c.10351C>T	XP_016866435.1:p.Pro3451Ser
XM_017010947.2:c.10282C>T	XP_016866436.1:p.Pro3428Ser
XM_017010948.2:c.9835C>T	XP_016866437.1:p.Pro3279Ser
XM_017010949.2:c.8686C>T	XP_016866438.1:p.Pro2896Ser
XR_001743469.1:n.10822C>T
XR_001744157.1:n.3145+7207G>A
XR_926870.2:n.3145+7207G>A
XR_926871.2:n.3013+7207G>A
XR_926872.2:n.3145+7207G>A
NM_138694.4:c.10546C>T MANE Select	NP_619639.3:p.Pro3516Ser