Canonical Allele Identifier: CA138896103

Gene: PKHD1

Linked Data

• dbSNP Id: rs897671588
• gnomAD v4: 6-51748081-G-A
• MyVariant Identifiers: chr6:g.51612879G>A (hg19) ; chr6:g.51748081G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.51748081G>A , CM000668.2:g.51748081G>A	GRCh38
NC_000006.11:g.51612879G>A , CM000668.1:g.51612879G>A	GRCh37
NC_000006.10:g.51720838G>A	NCBI36
NG_008753.1:g.344545C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000371117.8:c.9535C>T MANE Select	ENSP00000360158.3:p.Leu3179Phe
ENST00000340994.4:c.9535C>T	ENSP00000341097.4:p.Leu3179Phe
ENST00000371117.7:c.9535C>T	ENSP00000360158.3:p.Leu3179Phe
NM_138694.3:c.9535C>T	NP_619639.3:p.Leu3179Phe
NM_170724.2:c.9535C>T	NP_733842.2:p.Leu3179Phe
XM_011514679.1:c.9535C>T	XP_011512981.1:p.Leu3179Phe
XM_011514680.1:c.9535C>T	XP_011512982.1:p.Leu3179Phe
XM_011514681.1:c.9406C>T	XP_011512983.1:p.Leu3136Phe
XM_011514682.1:c.9397C>T	XP_011512984.1:p.Leu3133Phe
XM_011514683.1:c.8893C>T	XP_011512985.1:p.Leu2965Phe
XM_011514684.1:c.8824C>T	XP_011512986.1:p.Leu2942Phe
XM_011514685.1:c.9535C>T	XP_011512987.1:p.Leu3179Phe
XM_011514686.1:c.9535C>T	XP_011512988.1:p.Leu3179Phe
XM_011514687.1:c.9535C>T	XP_011512989.1:p.Leu3179Phe
XM_011514688.1:c.9535C>T	XP_011512990.1:p.Leu3179Phe
XM_011514690.1:c.3610C>T	XP_011512992.1:p.Leu1204Phe
XM_011514691.1:c.3610C>T	XP_011512993.1:p.Leu1204Phe
XM_011514680.3:c.9535C>T	XP_011512982.1:p.Leu3179Phe
XM_011514682.3:c.9397C>T	XP_011512984.1:p.Leu3133Phe
XM_011514683.3:c.8893C>T	XP_011512985.1:p.Leu2965Phe
XM_011514684.3:c.8824C>T	XP_011512986.1:p.Leu2942Phe
XM_011514686.2:c.9535C>T	XP_011512988.1:p.Leu3179Phe
XM_011514688.2:c.9535C>T	XP_011512990.1:p.Leu3179Phe
XM_011514690.3:c.3610C>T	XP_011512992.1:p.Leu1204Phe
XM_011514691.3:c.3610C>T	XP_011512993.1:p.Leu1204Phe
XM_017010944.2:c.9535C>T	XP_016866433.1:p.Leu3179Phe
XM_017010945.2:c.9460C>T	XP_016866434.1:p.Leu3154Phe
XM_017010946.2:c.9340C>T	XP_016866435.1:p.Leu3114Phe
XM_017010947.2:c.9271C>T	XP_016866436.1:p.Leu3091Phe
XM_017010948.2:c.8824C>T	XP_016866437.1:p.Leu2942Phe
XM_017010949.2:c.7675C>T	XP_016866438.1:p.Leu2559Phe
XM_017010950.1:c.9535C>T	XP_016866439.1:p.Leu3179Phe
XR_001743469.1:n.9811C>T
NM_138694.4:c.9535C>T MANE Select	NP_619639.3:p.Leu3179Phe
NM_170724.3:c.9535C>T	NP_733842.2:p.Leu3179Phe