Canonical Allele Identifier: CA364418311

Gene: PKHD1

Linked Data

• COSMIC: COSM1663521
• MyVariant Identifiers: chr6:g.51491800C>A (hg19) ; chr6:g.51627002C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.51627002C>A , CM000668.2:g.51627002C>A	GRCh38
NC_000006.11:g.51491800C>A , CM000668.1:g.51491800C>A	GRCh37
NC_000006.10:g.51599759C>A	NCBI36
NG_008753.1:g.465624G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000371117.8:c.11780G>T MANE Select	ENSP00000360158.3:p.Gly3927Val
ENST00000371117.7:c.11780G>T	ENSP00000360158.3:p.Gly3927Val
NM_138694.3:c.11780G>T	NP_619639.3:p.Gly3927Val
XM_011514679.1:c.11780G>T	XP_011512981.1:p.Gly3927Val
XM_011514680.1:c.11780G>T	XP_011512982.1:p.Gly3927Val
XM_011514681.1:c.11651G>T	XP_011512983.1:p.Gly3884Val
XM_011514682.1:c.11642G>T	XP_011512984.1:p.Gly3881Val
XM_011514683.1:c.11138G>T	XP_011512985.1:p.Gly3713Val
XM_011514684.1:c.11069G>T	XP_011512986.1:p.Gly3690Val
XM_011514690.1:c.5855G>T	XP_011512992.1:p.Gly1952Val
XM_011514691.1:c.5855G>T	XP_011512993.1:p.Gly1952Val
XM_011514680.3:c.11780G>T	XP_011512982.1:p.Gly3927Val
XM_011514682.3:c.11642G>T	XP_011512984.1:p.Gly3881Val
XM_011514683.3:c.11138G>T	XP_011512985.1:p.Gly3713Val
XM_011514684.3:c.11069G>T	XP_011512986.1:p.Gly3690Val
XM_011514690.3:c.5855G>T	XP_011512992.1:p.Gly1952Val
XM_011514691.3:c.5855G>T	XP_011512993.1:p.Gly1952Val
XM_017010944.2:c.11780G>T	XP_016866433.1:p.Gly3927Val
XM_017010945.2:c.11705G>T	XP_016866434.1:p.Gly3902Val
XM_017010946.2:c.11585G>T	XP_016866435.1:p.Gly3862Val
XM_017010947.2:c.11516G>T	XP_016866436.1:p.Gly3839Val
XM_017010948.2:c.11069G>T	XP_016866437.1:p.Gly3690Val
XM_017010949.2:c.9920G>T	XP_016866438.1:p.Gly3307Val
NM_138694.4:c.11780G>T MANE Select	NP_619639.3:p.Gly3927Val