Canonical Allele Identifier: CA364418313

Gene: PKHD1

Linked Data

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

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000371117.8:c.11780G>C MANE Select	ENSP00000360158.3:p.Gly3927Ala
ENST00000371117.7:c.11780G>C	ENSP00000360158.3:p.Gly3927Ala
NM_138694.3:c.11780G>C	NP_619639.3:p.Gly3927Ala
XM_011514679.1:c.11780G>C	XP_011512981.1:p.Gly3927Ala
XM_011514680.1:c.11780G>C	XP_011512982.1:p.Gly3927Ala
XM_011514681.1:c.11651G>C	XP_011512983.1:p.Gly3884Ala
XM_011514682.1:c.11642G>C	XP_011512984.1:p.Gly3881Ala
XM_011514683.1:c.11138G>C	XP_011512985.1:p.Gly3713Ala
XM_011514684.1:c.11069G>C	XP_011512986.1:p.Gly3690Ala
XM_011514690.1:c.5855G>C	XP_011512992.1:p.Gly1952Ala
XM_011514691.1:c.5855G>C	XP_011512993.1:p.Gly1952Ala
XM_011514680.3:c.11780G>C	XP_011512982.1:p.Gly3927Ala
XM_011514682.3:c.11642G>C	XP_011512984.1:p.Gly3881Ala
XM_011514683.3:c.11138G>C	XP_011512985.1:p.Gly3713Ala
XM_011514684.3:c.11069G>C	XP_011512986.1:p.Gly3690Ala
XM_011514690.3:c.5855G>C	XP_011512992.1:p.Gly1952Ala
XM_011514691.3:c.5855G>C	XP_011512993.1:p.Gly1952Ala
XM_017010944.2:c.11780G>C	XP_016866433.1:p.Gly3927Ala
XM_017010945.2:c.11705G>C	XP_016866434.1:p.Gly3902Ala
XM_017010946.2:c.11585G>C	XP_016866435.1:p.Gly3862Ala
XM_017010947.2:c.11516G>C	XP_016866436.1:p.Gly3839Ala
XM_017010948.2:c.11069G>C	XP_016866437.1:p.Gly3690Ala
XM_017010949.2:c.9920G>C	XP_016866438.1:p.Gly3307Ala
NM_138694.4:c.11780G>C MANE Select	NP_619639.3:p.Gly3927Ala