Canonical Allele Identifier: CA364437499

Gene: PKHD1

Linked Data

• MyVariant Identifiers: chr6:g.51524737T>G (hg19) ; chr6:g.51659939T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.51659939T>G , CM000668.2:g.51659939T>G	GRCh38
NC_000006.11:g.51524737T>G , CM000668.1:g.51524737T>G	GRCh37
NC_000006.10:g.51632696T>G	NCBI36
NG_008753.1:g.432687A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000371117.8:c.10187A>C MANE Select	ENSP00000360158.3:p.Tyr3396Ser
ENST00000371117.7:c.10187A>C	ENSP00000360158.3:p.Tyr3396Ser
NM_138694.3:c.10187A>C	NP_619639.3:p.Tyr3396Ser
XM_011514679.1:c.10187A>C	XP_011512981.1:p.Tyr3396Ser
XM_011514680.1:c.10187A>C	XP_011512982.1:p.Tyr3396Ser
XM_011514681.1:c.10058A>C	XP_011512983.1:p.Tyr3353Ser
XM_011514682.1:c.10049A>C	XP_011512984.1:p.Tyr3350Ser
XM_011514683.1:c.9545A>C	XP_011512985.1:p.Tyr3182Ser
XM_011514684.1:c.9476A>C	XP_011512986.1:p.Tyr3159Ser
XM_011514687.1:c.10157-10719A>C	XP_011512989.1:n.10157-10719A>C
XM_011514690.1:c.4262A>C	XP_011512992.1:p.Tyr1421Ser
XM_011514691.1:c.4262A>C	XP_011512993.1:p.Tyr1421Ser
XR_926870.1:n.535+7566T>G
XR_926871.1:n.403+7566T>G
XR_926872.1:n.535+7566T>G
XM_011514680.3:c.10187A>C	XP_011512982.1:p.Tyr3396Ser
XM_011514682.3:c.10049A>C	XP_011512984.1:p.Tyr3350Ser
XM_011514683.3:c.9545A>C	XP_011512985.1:p.Tyr3182Ser
XM_011514684.3:c.9476A>C	XP_011512986.1:p.Tyr3159Ser
XM_011514690.3:c.4262A>C	XP_011512992.1:p.Tyr1421Ser
XM_011514691.3:c.4262A>C	XP_011512993.1:p.Tyr1421Ser
XM_017010944.2:c.10187A>C	XP_016866433.1:p.Tyr3396Ser
XM_017010945.2:c.10112A>C	XP_016866434.1:p.Tyr3371Ser
XM_017010946.2:c.9992A>C	XP_016866435.1:p.Tyr3331Ser
XM_017010947.2:c.9923A>C	XP_016866436.1:p.Tyr3308Ser
XM_017010948.2:c.9476A>C	XP_016866437.1:p.Tyr3159Ser
XM_017010949.2:c.8327A>C	XP_016866438.1:p.Tyr2776Ser
XR_001743469.1:n.10463A>C
XR_001744157.1:n.3145+7566T>G
XR_926870.2:n.3145+7566T>G
XR_926871.2:n.3013+7566T>G
XR_926872.2:n.3145+7566T>G
NM_138694.4:c.10187A>C MANE Select	NP_619639.3:p.Tyr3396Ser