Canonical Allele Identifier: CA364434979

Gene: PKHD1

Linked Data

• MyVariant Identifiers: chr6:g.51524456T>G (hg19) ; chr6:g.51659658T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.51659658T>G , CM000668.2:g.51659658T>G	GRCh38
NC_000006.11:g.51524456T>G , CM000668.1:g.51524456T>G	GRCh37
NC_000006.10:g.51632415T>G	NCBI36
NG_008753.1:g.432968A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000371117.8:c.10468A>C MANE Select	ENSP00000360158.3:p.Ser3490Arg
ENST00000371117.7:c.10468A>C	ENSP00000360158.3:p.Ser3490Arg
NM_138694.3:c.10468A>C	NP_619639.3:p.Ser3490Arg
XM_011514679.1:c.10468A>C	XP_011512981.1:p.Ser3490Arg
XM_011514680.1:c.10468A>C	XP_011512982.1:p.Ser3490Arg
XM_011514681.1:c.10339A>C	XP_011512983.1:p.Ser3447Arg
XM_011514682.1:c.10330A>C	XP_011512984.1:p.Ser3444Arg
XM_011514683.1:c.9826A>C	XP_011512985.1:p.Ser3276Arg
XM_011514684.1:c.9757A>C	XP_011512986.1:p.Ser3253Arg
XM_011514687.1:c.10157-10438A>C	XP_011512989.1:n.10157-10438A>C
XM_011514690.1:c.4543A>C	XP_011512992.1:p.Ser1515Arg
XM_011514691.1:c.4543A>C	XP_011512993.1:p.Ser1515Arg
XR_926870.1:n.535+7285T>G
XR_926871.1:n.403+7285T>G
XR_926872.1:n.535+7285T>G
XM_011514680.3:c.10468A>C	XP_011512982.1:p.Ser3490Arg
XM_011514682.3:c.10330A>C	XP_011512984.1:p.Ser3444Arg
XM_011514683.3:c.9826A>C	XP_011512985.1:p.Ser3276Arg
XM_011514684.3:c.9757A>C	XP_011512986.1:p.Ser3253Arg
XM_011514690.3:c.4543A>C	XP_011512992.1:p.Ser1515Arg
XM_011514691.3:c.4543A>C	XP_011512993.1:p.Ser1515Arg
XM_017010944.2:c.10468A>C	XP_016866433.1:p.Ser3490Arg
XM_017010945.2:c.10393A>C	XP_016866434.1:p.Ser3465Arg
XM_017010946.2:c.10273A>C	XP_016866435.1:p.Ser3425Arg
XM_017010947.2:c.10204A>C	XP_016866436.1:p.Ser3402Arg
XM_017010948.2:c.9757A>C	XP_016866437.1:p.Ser3253Arg
XM_017010949.2:c.8608A>C	XP_016866438.1:p.Ser2870Arg
XR_001743469.1:n.10744A>C
XR_001744157.1:n.3145+7285T>G
XR_926870.2:n.3145+7285T>G
XR_926871.2:n.3013+7285T>G
XR_926872.2:n.3145+7285T>G
NM_138694.4:c.10468A>C MANE Select	NP_619639.3:p.Ser3490Arg