Canonical Allele Identifier: CA364418364

Gene: PKHD1

Linked Data

• MyVariant Identifiers: chr6:g.51491807C>T (hg19) ; chr6:g.51627009C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.51627009C>T , CM000668.2:g.51627009C>T	GRCh38
NC_000006.11:g.51491807C>T , CM000668.1:g.51491807C>T	GRCh37
NC_000006.10:g.51599766C>T	NCBI36
NG_008753.1:g.465617G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000371117.8:c.11773G>A MANE Select	ENSP00000360158.3:p.Val3925Met
ENST00000371117.7:c.11773G>A	ENSP00000360158.3:p.Val3925Met
NM_138694.3:c.11773G>A	NP_619639.3:p.Val3925Met
XM_011514679.1:c.11773G>A	XP_011512981.1:p.Val3925Met
XM_011514680.1:c.11773G>A	XP_011512982.1:p.Val3925Met
XM_011514681.1:c.11644G>A	XP_011512983.1:p.Val3882Met
XM_011514682.1:c.11635G>A	XP_011512984.1:p.Val3879Met
XM_011514683.1:c.11131G>A	XP_011512985.1:p.Val3711Met
XM_011514684.1:c.11062G>A	XP_011512986.1:p.Val3688Met
XM_011514690.1:c.5848G>A	XP_011512992.1:p.Val1950Met
XM_011514691.1:c.5848G>A	XP_011512993.1:p.Val1950Met
XM_011514680.3:c.11773G>A	XP_011512982.1:p.Val3925Met
XM_011514682.3:c.11635G>A	XP_011512984.1:p.Val3879Met
XM_011514683.3:c.11131G>A	XP_011512985.1:p.Val3711Met
XM_011514684.3:c.11062G>A	XP_011512986.1:p.Val3688Met
XM_011514690.3:c.5848G>A	XP_011512992.1:p.Val1950Met
XM_011514691.3:c.5848G>A	XP_011512993.1:p.Val1950Met
XM_017010944.2:c.11773G>A	XP_016866433.1:p.Val3925Met
XM_017010945.2:c.11698G>A	XP_016866434.1:p.Val3900Met
XM_017010946.2:c.11578G>A	XP_016866435.1:p.Val3860Met
XM_017010947.2:c.11509G>A	XP_016866436.1:p.Val3837Met
XM_017010948.2:c.11062G>A	XP_016866437.1:p.Val3688Met
XM_017010949.2:c.9913G>A	XP_016866438.1:p.Val3305Met
NM_138694.4:c.11773G>A MANE Select	NP_619639.3:p.Val3925Met