Canonical Allele Identifier: CA364420168

Gene: PKHD1

Linked Data

• gnomAD v4: 6-51747840-G-A
• MyVariant Identifiers: chr6:g.51612638G>A (hg19) ; chr6:g.51747840G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.51747840G>A , CM000668.2:g.51747840G>A	GRCh38
NC_000006.11:g.51612638G>A , CM000668.1:g.51612638G>A	GRCh37
NC_000006.10:g.51720597G>A	NCBI36
NG_008753.1:g.344786C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000371117.8:c.9776C>T MANE Select	ENSP00000360158.3:p.Pro3259Leu
ENST00000340994.4:c.9776C>T	ENSP00000341097.4:p.Pro3259Leu
ENST00000371117.7:c.9776C>T	ENSP00000360158.3:p.Pro3259Leu
NM_138694.3:c.9776C>T	NP_619639.3:p.Pro3259Leu
NM_170724.2:c.9776C>T	NP_733842.2:p.Pro3259Leu
XM_011514679.1:c.9776C>T	XP_011512981.1:p.Pro3259Leu
XM_011514680.1:c.9776C>T	XP_011512982.1:p.Pro3259Leu
XM_011514681.1:c.9647C>T	XP_011512983.1:p.Pro3216Leu
XM_011514682.1:c.9638C>T	XP_011512984.1:p.Pro3213Leu
XM_011514683.1:c.9134C>T	XP_011512985.1:p.Pro3045Leu
XM_011514684.1:c.9065C>T	XP_011512986.1:p.Pro3022Leu
XM_011514685.1:c.9776C>T	XP_011512987.1:p.Pro3259Leu
XM_011514686.1:c.9776C>T	XP_011512988.1:p.Pro3259Leu
XM_011514687.1:c.9776C>T	XP_011512989.1:p.Pro3259Leu
XM_011514688.1:c.9776C>T	XP_011512990.1:p.Pro3259Leu
XM_011514690.1:c.3851C>T	XP_011512992.1:p.Pro1284Leu
XM_011514691.1:c.3851C>T	XP_011512993.1:p.Pro1284Leu
XM_011514680.3:c.9776C>T	XP_011512982.1:p.Pro3259Leu
XM_011514682.3:c.9638C>T	XP_011512984.1:p.Pro3213Leu
XM_011514683.3:c.9134C>T	XP_011512985.1:p.Pro3045Leu
XM_011514684.3:c.9065C>T	XP_011512986.1:p.Pro3022Leu
XM_011514686.2:c.9776C>T	XP_011512988.1:p.Pro3259Leu
XM_011514688.2:c.9776C>T	XP_011512990.1:p.Pro3259Leu
XM_011514690.3:c.3851C>T	XP_011512992.1:p.Pro1284Leu
XM_011514691.3:c.3851C>T	XP_011512993.1:p.Pro1284Leu
XM_017010944.2:c.9776C>T	XP_016866433.1:p.Pro3259Leu
XM_017010945.2:c.9701C>T	XP_016866434.1:p.Pro3234Leu
XM_017010946.2:c.9581C>T	XP_016866435.1:p.Pro3194Leu
XM_017010947.2:c.9512C>T	XP_016866436.1:p.Pro3171Leu
XM_017010948.2:c.9065C>T	XP_016866437.1:p.Pro3022Leu
XM_017010949.2:c.7916C>T	XP_016866438.1:p.Pro2639Leu
XM_017010950.1:c.9776C>T	XP_016866439.1:p.Pro3259Leu
XR_001743469.1:n.10052C>T
NM_138694.4:c.9776C>T MANE Select	NP_619639.3:p.Pro3259Leu
NM_170724.3:c.9776C>T	NP_733842.2:p.Pro3259Leu