Canonical Allele Identifier: CA364418859

Gene: PKHD1

Linked Data

• gnomAD v4: 6-51627075-G-T
• MyVariant Identifiers: chr6:g.51491873G>T (hg19) ; chr6:g.51627075G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.51627075G>T , CM000668.2:g.51627075G>T	GRCh38
NC_000006.11:g.51491873G>T , CM000668.1:g.51491873G>T	GRCh37
NC_000006.10:g.51599832G>T	NCBI36
NG_008753.1:g.465551C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000371117.8:c.11707C>A MANE Select	ENSP00000360158.3:p.Gln3903Lys
ENST00000371117.7:c.11707C>A	ENSP00000360158.3:p.Gln3903Lys
NM_138694.3:c.11707C>A	NP_619639.3:p.Gln3903Lys
XM_011514679.1:c.11707C>A	XP_011512981.1:p.Gln3903Lys
XM_011514680.1:c.11707C>A	XP_011512982.1:p.Gln3903Lys
XM_011514681.1:c.11578C>A	XP_011512983.1:p.Gln3860Lys
XM_011514682.1:c.11569C>A	XP_011512984.1:p.Gln3857Lys
XM_011514683.1:c.11065C>A	XP_011512985.1:p.Gln3689Lys
XM_011514684.1:c.10996C>A	XP_011512986.1:p.Gln3666Lys
XM_011514690.1:c.5782C>A	XP_011512992.1:p.Gln1928Lys
XM_011514691.1:c.5782C>A	XP_011512993.1:p.Gln1928Lys
XM_011514680.3:c.11707C>A	XP_011512982.1:p.Gln3903Lys
XM_011514682.3:c.11569C>A	XP_011512984.1:p.Gln3857Lys
XM_011514683.3:c.11065C>A	XP_011512985.1:p.Gln3689Lys
XM_011514684.3:c.10996C>A	XP_011512986.1:p.Gln3666Lys
XM_011514690.3:c.5782C>A	XP_011512992.1:p.Gln1928Lys
XM_011514691.3:c.5782C>A	XP_011512993.1:p.Gln1928Lys
XM_017010944.2:c.11707C>A	XP_016866433.1:p.Gln3903Lys
XM_017010945.2:c.11632C>A	XP_016866434.1:p.Gln3878Lys
XM_017010946.2:c.11512C>A	XP_016866435.1:p.Gln3838Lys
XM_017010947.2:c.11443C>A	XP_016866436.1:p.Gln3815Lys
XM_017010948.2:c.10996C>A	XP_016866437.1:p.Gln3666Lys
XM_017010949.2:c.9847C>A	XP_016866438.1:p.Gln3283Lys
NM_138694.4:c.11707C>A MANE Select	NP_619639.3:p.Gln3903Lys