Canonical Allele Identifier: CA364437056

Gene: PKHD1

Linked Data

• MyVariant Identifiers: chr6:g.51524684T>G (hg19) ; chr6:g.51659886T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.51659886T>G , CM000668.2:g.51659886T>G	GRCh38
NC_000006.11:g.51524684T>G , CM000668.1:g.51524684T>G	GRCh37
NC_000006.10:g.51632643T>G	NCBI36
NG_008753.1:g.432740A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000371117.8:c.10240A>C MANE Select	ENSP00000360158.3:p.Ile3414Leu
ENST00000371117.7:c.10240A>C	ENSP00000360158.3:p.Ile3414Leu
NM_138694.3:c.10240A>C	NP_619639.3:p.Ile3414Leu
XM_011514679.1:c.10240A>C	XP_011512981.1:p.Ile3414Leu
XM_011514680.1:c.10240A>C	XP_011512982.1:p.Ile3414Leu
XM_011514681.1:c.10111A>C	XP_011512983.1:p.Ile3371Leu
XM_011514682.1:c.10102A>C	XP_011512984.1:p.Ile3368Leu
XM_011514683.1:c.9598A>C	XP_011512985.1:p.Ile3200Leu
XM_011514684.1:c.9529A>C	XP_011512986.1:p.Ile3177Leu
XM_011514687.1:c.10157-10666A>C	XP_011512989.1:n.10157-10666A>C
XM_011514690.1:c.4315A>C	XP_011512992.1:p.Ile1439Leu
XM_011514691.1:c.4315A>C	XP_011512993.1:p.Ile1439Leu
XR_926870.1:n.535+7513T>G
XR_926871.1:n.403+7513T>G
XR_926872.1:n.535+7513T>G
XM_011514680.3:c.10240A>C	XP_011512982.1:p.Ile3414Leu
XM_011514682.3:c.10102A>C	XP_011512984.1:p.Ile3368Leu
XM_011514683.3:c.9598A>C	XP_011512985.1:p.Ile3200Leu
XM_011514684.3:c.9529A>C	XP_011512986.1:p.Ile3177Leu
XM_011514690.3:c.4315A>C	XP_011512992.1:p.Ile1439Leu
XM_011514691.3:c.4315A>C	XP_011512993.1:p.Ile1439Leu
XM_017010944.2:c.10240A>C	XP_016866433.1:p.Ile3414Leu
XM_017010945.2:c.10165A>C	XP_016866434.1:p.Ile3389Leu
XM_017010946.2:c.10045A>C	XP_016866435.1:p.Ile3349Leu
XM_017010947.2:c.9976A>C	XP_016866436.1:p.Ile3326Leu
XM_017010948.2:c.9529A>C	XP_016866437.1:p.Ile3177Leu
XM_017010949.2:c.8380A>C	XP_016866438.1:p.Ile2794Leu
XR_001743469.1:n.10516A>C
XR_001744157.1:n.3145+7513T>G
XR_926870.2:n.3145+7513T>G
XR_926871.2:n.3013+7513T>G
XR_926872.2:n.3145+7513T>G
NM_138694.4:c.10240A>C MANE Select	NP_619639.3:p.Ile3414Leu