Canonical Allele Identifier: CA364420223

Gene: PKHD1

Linked Data

• gnomAD v4: 6-51747849-G-T
• MyVariant Identifiers: chr6:g.51612647G>T (hg19) ; chr6:g.51747849G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.51747849G>T , CM000668.2:g.51747849G>T	GRCh38
NC_000006.11:g.51612647G>T , CM000668.1:g.51612647G>T	GRCh37
NC_000006.10:g.51720606G>T	NCBI36
NG_008753.1:g.344777C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000371117.8:c.9767C>A MANE Select	ENSP00000360158.3:p.Pro3256His
ENST00000340994.4:c.9767C>A	ENSP00000341097.4:p.Pro3256His
ENST00000371117.7:c.9767C>A	ENSP00000360158.3:p.Pro3256His
NM_138694.3:c.9767C>A	NP_619639.3:p.Pro3256His
NM_170724.2:c.9767C>A	NP_733842.2:p.Pro3256His
XM_011514679.1:c.9767C>A	XP_011512981.1:p.Pro3256His
XM_011514680.1:c.9767C>A	XP_011512982.1:p.Pro3256His
XM_011514681.1:c.9638C>A	XP_011512983.1:p.Pro3213His
XM_011514682.1:c.9629C>A	XP_011512984.1:p.Pro3210His
XM_011514683.1:c.9125C>A	XP_011512985.1:p.Pro3042His
XM_011514684.1:c.9056C>A	XP_011512986.1:p.Pro3019His
XM_011514685.1:c.9767C>A	XP_011512987.1:p.Pro3256His
XM_011514686.1:c.9767C>A	XP_011512988.1:p.Pro3256His
XM_011514687.1:c.9767C>A	XP_011512989.1:p.Pro3256His
XM_011514688.1:c.9767C>A	XP_011512990.1:p.Pro3256His
XM_011514690.1:c.3842C>A	XP_011512992.1:p.Pro1281His
XM_011514691.1:c.3842C>A	XP_011512993.1:p.Pro1281His
XM_011514680.3:c.9767C>A	XP_011512982.1:p.Pro3256His
XM_011514682.3:c.9629C>A	XP_011512984.1:p.Pro3210His
XM_011514683.3:c.9125C>A	XP_011512985.1:p.Pro3042His
XM_011514684.3:c.9056C>A	XP_011512986.1:p.Pro3019His
XM_011514686.2:c.9767C>A	XP_011512988.1:p.Pro3256His
XM_011514688.2:c.9767C>A	XP_011512990.1:p.Pro3256His
XM_011514690.3:c.3842C>A	XP_011512992.1:p.Pro1281His
XM_011514691.3:c.3842C>A	XP_011512993.1:p.Pro1281His
XM_017010944.2:c.9767C>A	XP_016866433.1:p.Pro3256His
XM_017010945.2:c.9692C>A	XP_016866434.1:p.Pro3231His
XM_017010946.2:c.9572C>A	XP_016866435.1:p.Pro3191His
XM_017010947.2:c.9503C>A	XP_016866436.1:p.Pro3168His
XM_017010948.2:c.9056C>A	XP_016866437.1:p.Pro3019His
XM_017010949.2:c.7907C>A	XP_016866438.1:p.Pro2636His
XM_017010950.1:c.9767C>A	XP_016866439.1:p.Pro3256His
XR_001743469.1:n.10043C>A
NM_138694.4:c.9767C>A MANE Select	NP_619639.3:p.Pro3256His
NM_170724.3:c.9767C>A	NP_733842.2:p.Pro3256His