Canonical Allele Identifier: CA364434670

Gene: PKHD1

Linked Data

• gnomAD v4: 6-51659627-T-G
• MyVariant Identifiers: chr6:g.51524425T>G (hg19) ; chr6:g.51659627T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.51659627T>G , CM000668.2:g.51659627T>G	GRCh38
NC_000006.11:g.51524425T>G , CM000668.1:g.51524425T>G	GRCh37
NC_000006.10:g.51632384T>G	NCBI36
NG_008753.1:g.432999A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000371117.8:c.10499A>C MANE Select	ENSP00000360158.3:p.Tyr3500Ser
ENST00000371117.7:c.10499A>C	ENSP00000360158.3:p.Tyr3500Ser
NM_138694.3:c.10499A>C	NP_619639.3:p.Tyr3500Ser
XM_011514679.1:c.10499A>C	XP_011512981.1:p.Tyr3500Ser
XM_011514680.1:c.10499A>C	XP_011512982.1:p.Tyr3500Ser
XM_011514681.1:c.10370A>C	XP_011512983.1:p.Tyr3457Ser
XM_011514682.1:c.10361A>C	XP_011512984.1:p.Tyr3454Ser
XM_011514683.1:c.9857A>C	XP_011512985.1:p.Tyr3286Ser
XM_011514684.1:c.9788A>C	XP_011512986.1:p.Tyr3263Ser
XM_011514687.1:c.10157-10407A>C	XP_011512989.1:n.10157-10407A>C
XM_011514690.1:c.4574A>C	XP_011512992.1:p.Tyr1525Ser
XM_011514691.1:c.4574A>C	XP_011512993.1:p.Tyr1525Ser
XR_926870.1:n.535+7254T>G
XR_926871.1:n.403+7254T>G
XR_926872.1:n.535+7254T>G
XM_011514680.3:c.10499A>C	XP_011512982.1:p.Tyr3500Ser
XM_011514682.3:c.10361A>C	XP_011512984.1:p.Tyr3454Ser
XM_011514683.3:c.9857A>C	XP_011512985.1:p.Tyr3286Ser
XM_011514684.3:c.9788A>C	XP_011512986.1:p.Tyr3263Ser
XM_011514690.3:c.4574A>C	XP_011512992.1:p.Tyr1525Ser
XM_011514691.3:c.4574A>C	XP_011512993.1:p.Tyr1525Ser
XM_017010944.2:c.10499A>C	XP_016866433.1:p.Tyr3500Ser
XM_017010945.2:c.10424A>C	XP_016866434.1:p.Tyr3475Ser
XM_017010946.2:c.10304A>C	XP_016866435.1:p.Tyr3435Ser
XM_017010947.2:c.10235A>C	XP_016866436.1:p.Tyr3412Ser
XM_017010948.2:c.9788A>C	XP_016866437.1:p.Tyr3263Ser
XM_017010949.2:c.8639A>C	XP_016866438.1:p.Tyr2880Ser
XR_001743469.1:n.10775A>C
XR_001744157.1:n.3145+7254T>G
XR_926870.2:n.3145+7254T>G
XR_926871.2:n.3013+7254T>G
XR_926872.2:n.3145+7254T>G
NM_138694.4:c.10499A>C MANE Select	NP_619639.3:p.Tyr3500Ser