Canonical Allele Identifier: CA364437708

Gene: PKHD1

Linked Data

• MyVariant Identifiers: chr6:g.51524765T>C (hg19) ; chr6:g.51659967T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.51659967T>C , CM000668.2:g.51659967T>C	GRCh38
NC_000006.11:g.51524765T>C , CM000668.1:g.51524765T>C	GRCh37
NC_000006.10:g.51632724T>C	NCBI36
NG_008753.1:g.432659A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000371117.8:c.10159A>G MANE Select	ENSP00000360158.3:p.Thr3387Ala
ENST00000371117.7:c.10159A>G	ENSP00000360158.3:p.Thr3387Ala
NM_138694.3:c.10159A>G	NP_619639.3:p.Thr3387Ala
XM_011514679.1:c.10159A>G	XP_011512981.1:p.Thr3387Ala
XM_011514680.1:c.10159A>G	XP_011512982.1:p.Thr3387Ala
XM_011514681.1:c.10030A>G	XP_011512983.1:p.Thr3344Ala
XM_011514682.1:c.10021A>G	XP_011512984.1:p.Thr3341Ala
XM_011514683.1:c.9517A>G	XP_011512985.1:p.Thr3173Ala
XM_011514684.1:c.9448A>G	XP_011512986.1:p.Thr3150Ala
XM_011514687.1:c.10157-10747A>G	XP_011512989.1:n.10157-10747A>G
XM_011514690.1:c.4234A>G	XP_011512992.1:p.Thr1412Ala
XM_011514691.1:c.4234A>G	XP_011512993.1:p.Thr1412Ala
XR_926870.1:n.535+7594T>C
XR_926871.1:n.403+7594T>C
XR_926872.1:n.535+7594T>C
XM_011514680.3:c.10159A>G	XP_011512982.1:p.Thr3387Ala
XM_011514682.3:c.10021A>G	XP_011512984.1:p.Thr3341Ala
XM_011514683.3:c.9517A>G	XP_011512985.1:p.Thr3173Ala
XM_011514684.3:c.9448A>G	XP_011512986.1:p.Thr3150Ala
XM_011514690.3:c.4234A>G	XP_011512992.1:p.Thr1412Ala
XM_011514691.3:c.4234A>G	XP_011512993.1:p.Thr1412Ala
XM_017010944.2:c.10159A>G	XP_016866433.1:p.Thr3387Ala
XM_017010945.2:c.10084A>G	XP_016866434.1:p.Thr3362Ala
XM_017010946.2:c.9964A>G	XP_016866435.1:p.Thr3322Ala
XM_017010947.2:c.9895A>G	XP_016866436.1:p.Thr3299Ala
XM_017010948.2:c.9448A>G	XP_016866437.1:p.Thr3150Ala
XM_017010949.2:c.8299A>G	XP_016866438.1:p.Thr2767Ala
XR_001743469.1:n.10435A>G
XR_001744157.1:n.3145+7594T>C
XR_926870.2:n.3145+7594T>C
XR_926871.2:n.3013+7594T>C
XR_926872.2:n.3145+7594T>C
NM_138694.4:c.10159A>G MANE Select	NP_619639.3:p.Thr3387Ala