Canonical Allele Identifier: CA364418759

Gene: PKHD1

Linked Data

• MyVariant Identifiers: chr6:g.51491852A>G (hg19) ; chr6:g.51627054A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.51627054A>G , CM000668.2:g.51627054A>G	GRCh38
NC_000006.11:g.51491852A>G , CM000668.1:g.51491852A>G	GRCh37
NC_000006.10:g.51599811A>G	NCBI36
NG_008753.1:g.465572T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000371117.8:c.11728T>C MANE Select	ENSP00000360158.3:p.Ser3910Pro
ENST00000371117.7:c.11728T>C	ENSP00000360158.3:p.Ser3910Pro
NM_138694.3:c.11728T>C	NP_619639.3:p.Ser3910Pro
XM_011514679.1:c.11728T>C	XP_011512981.1:p.Ser3910Pro
XM_011514680.1:c.11728T>C	XP_011512982.1:p.Ser3910Pro
XM_011514681.1:c.11599T>C	XP_011512983.1:p.Ser3867Pro
XM_011514682.1:c.11590T>C	XP_011512984.1:p.Ser3864Pro
XM_011514683.1:c.11086T>C	XP_011512985.1:p.Ser3696Pro
XM_011514684.1:c.11017T>C	XP_011512986.1:p.Ser3673Pro
XM_011514690.1:c.5803T>C	XP_011512992.1:p.Ser1935Pro
XM_011514691.1:c.5803T>C	XP_011512993.1:p.Ser1935Pro
XM_011514680.3:c.11728T>C	XP_011512982.1:p.Ser3910Pro
XM_011514682.3:c.11590T>C	XP_011512984.1:p.Ser3864Pro
XM_011514683.3:c.11086T>C	XP_011512985.1:p.Ser3696Pro
XM_011514684.3:c.11017T>C	XP_011512986.1:p.Ser3673Pro
XM_011514690.3:c.5803T>C	XP_011512992.1:p.Ser1935Pro
XM_011514691.3:c.5803T>C	XP_011512993.1:p.Ser1935Pro
XM_017010944.2:c.11728T>C	XP_016866433.1:p.Ser3910Pro
XM_017010945.2:c.11653T>C	XP_016866434.1:p.Ser3885Pro
XM_017010946.2:c.11533T>C	XP_016866435.1:p.Ser3845Pro
XM_017010947.2:c.11464T>C	XP_016866436.1:p.Ser3822Pro
XM_017010948.2:c.11017T>C	XP_016866437.1:p.Ser3673Pro
XM_017010949.2:c.9868T>C	XP_016866438.1:p.Ser3290Pro
NM_138694.4:c.11728T>C MANE Select	NP_619639.3:p.Ser3910Pro