Canonical Allele Identifier: CA364421075

Gene: PKHD1

Linked Data

• MyVariant Identifiers: chr6:g.51612980G>A (hg19) ; chr6:g.51748182G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.51748182G>A , CM000668.2:g.51748182G>A	GRCh38
NC_000006.11:g.51612980G>A , CM000668.1:g.51612980G>A	GRCh37
NC_000006.10:g.51720939G>A	NCBI36
NG_008753.1:g.344444C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000371117.8:c.9434C>T MANE Select	ENSP00000360158.3:p.Ser3145Phe
ENST00000340994.4:c.9434C>T	ENSP00000341097.4:p.Ser3145Phe
ENST00000371117.7:c.9434C>T	ENSP00000360158.3:p.Ser3145Phe
NM_138694.3:c.9434C>T	NP_619639.3:p.Ser3145Phe
NM_170724.2:c.9434C>T	NP_733842.2:p.Ser3145Phe
XM_011514679.1:c.9434C>T	XP_011512981.1:p.Ser3145Phe
XM_011514680.1:c.9434C>T	XP_011512982.1:p.Ser3145Phe
XM_011514681.1:c.9305C>T	XP_011512983.1:p.Ser3102Phe
XM_011514682.1:c.9296C>T	XP_011512984.1:p.Ser3099Phe
XM_011514683.1:c.8792C>T	XP_011512985.1:p.Ser2931Phe
XM_011514684.1:c.8723C>T	XP_011512986.1:p.Ser2908Phe
XM_011514685.1:c.9434C>T	XP_011512987.1:p.Ser3145Phe
XM_011514686.1:c.9434C>T	XP_011512988.1:p.Ser3145Phe
XM_011514687.1:c.9434C>T	XP_011512989.1:p.Ser3145Phe
XM_011514688.1:c.9434C>T	XP_011512990.1:p.Ser3145Phe
XM_011514690.1:c.3509C>T	XP_011512992.1:p.Ser1170Phe
XM_011514691.1:c.3509C>T	XP_011512993.1:p.Ser1170Phe
XM_011514680.3:c.9434C>T	XP_011512982.1:p.Ser3145Phe
XM_011514682.3:c.9296C>T	XP_011512984.1:p.Ser3099Phe
XM_011514683.3:c.8792C>T	XP_011512985.1:p.Ser2931Phe
XM_011514684.3:c.8723C>T	XP_011512986.1:p.Ser2908Phe
XM_011514686.2:c.9434C>T	XP_011512988.1:p.Ser3145Phe
XM_011514688.2:c.9434C>T	XP_011512990.1:p.Ser3145Phe
XM_011514690.3:c.3509C>T	XP_011512992.1:p.Ser1170Phe
XM_011514691.3:c.3509C>T	XP_011512993.1:p.Ser1170Phe
XM_017010944.2:c.9434C>T	XP_016866433.1:p.Ser3145Phe
XM_017010945.2:c.9359C>T	XP_016866434.1:p.Ser3120Phe
XM_017010946.2:c.9239C>T	XP_016866435.1:p.Ser3080Phe
XM_017010947.2:c.9170C>T	XP_016866436.1:p.Ser3057Phe
XM_017010948.2:c.8723C>T	XP_016866437.1:p.Ser2908Phe
XM_017010949.2:c.7574C>T	XP_016866438.1:p.Ser2525Phe
XM_017010950.1:c.9434C>T	XP_016866439.1:p.Ser3145Phe
XR_001743469.1:n.9710C>T
NM_138694.4:c.9434C>T MANE Select	NP_619639.3:p.Ser3145Phe
NM_170724.3:c.9434C>T	NP_733842.2:p.Ser3145Phe