Canonical Allele Identifier: CA364418722

Gene: PKHD1

Linked Data

• dbSNP Id: rs2150277735
• MyVariant Identifiers: chr6:g.51491848G>A (hg19) ; chr6:g.51627050G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.51627050G>A , CM000668.2:g.51627050G>A	GRCh38
NC_000006.11:g.51491848G>A , CM000668.1:g.51491848G>A	GRCh37
NC_000006.10:g.51599807G>A	NCBI36
NG_008753.1:g.465576C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000371117.8:c.11732C>T MANE Select	ENSP00000360158.3:p.Ser3911Phe
ENST00000371117.7:c.11732C>T	ENSP00000360158.3:p.Ser3911Phe
NM_138694.3:c.11732C>T	NP_619639.3:p.Ser3911Phe
XM_011514679.1:c.11732C>T	XP_011512981.1:p.Ser3911Phe
XM_011514680.1:c.11732C>T	XP_011512982.1:p.Ser3911Phe
XM_011514681.1:c.11603C>T	XP_011512983.1:p.Ser3868Phe
XM_011514682.1:c.11594C>T	XP_011512984.1:p.Ser3865Phe
XM_011514683.1:c.11090C>T	XP_011512985.1:p.Ser3697Phe
XM_011514684.1:c.11021C>T	XP_011512986.1:p.Ser3674Phe
XM_011514690.1:c.5807C>T	XP_011512992.1:p.Ser1936Phe
XM_011514691.1:c.5807C>T	XP_011512993.1:p.Ser1936Phe
XM_011514680.3:c.11732C>T	XP_011512982.1:p.Ser3911Phe
XM_011514682.3:c.11594C>T	XP_011512984.1:p.Ser3865Phe
XM_011514683.3:c.11090C>T	XP_011512985.1:p.Ser3697Phe
XM_011514684.3:c.11021C>T	XP_011512986.1:p.Ser3674Phe
XM_011514690.3:c.5807C>T	XP_011512992.1:p.Ser1936Phe
XM_011514691.3:c.5807C>T	XP_011512993.1:p.Ser1936Phe
XM_017010944.2:c.11732C>T	XP_016866433.1:p.Ser3911Phe
XM_017010945.2:c.11657C>T	XP_016866434.1:p.Ser3886Phe
XM_017010946.2:c.11537C>T	XP_016866435.1:p.Ser3846Phe
XM_017010947.2:c.11468C>T	XP_016866436.1:p.Ser3823Phe
XM_017010948.2:c.11021C>T	XP_016866437.1:p.Ser3674Phe
XM_017010949.2:c.9872C>T	XP_016866438.1:p.Ser3291Phe
NM_138694.4:c.11732C>T MANE Select	NP_619639.3:p.Ser3911Phe