Canonical Allele Identifier: CA364426251

Gene: PKHD1

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.51649158A>G , CM000668.2:g.51649158A>G	GRCh38
NC_000006.11:g.51513956A>G , CM000668.1:g.51513956A>G	GRCh37
NC_000006.10:g.51621915A>G	NCBI36
NG_008753.1:g.443468T>C

Transcript Alleles

HGVS	Amino-acid Change
NM_138694.4:c.11237T>C MANE Select	NP_619639.3:p.Leu3746Pro
ENST00000371117.8:c.11237T>C MANE Select	ENSP00000360158.3:p.Leu3746Pro
NM_138694.3:c.11237T>C	NP_619639.3:p.Leu3746Pro
ENST00000371117.7:c.11237T>C	ENSP00000360158.3:p.Leu3746Pro
XM_011514679.1:c.11237T>C	XP_011512981.1:p.Leu3746Pro
XM_011514680.1:c.11237T>C	XP_011512982.1:p.Leu3746Pro
XM_011514680.3:c.11237T>C	XP_011512982.1:p.Leu3746Pro
XM_011514681.1:c.11108T>C	XP_011512983.1:p.Leu3703Pro
XM_011514682.1:c.11099T>C	XP_011512984.1:p.Leu3700Pro
XM_011514682.3:c.11099T>C	XP_011512984.1:p.Leu3700Pro
XM_011514683.1:c.10595T>C	XP_011512985.1:p.Leu3532Pro
XM_011514683.3:c.10595T>C	XP_011512985.1:p.Leu3532Pro
XM_011514684.1:c.10526T>C	XP_011512986.1:p.Leu3509Pro
XM_011514684.3:c.10526T>C	XP_011512986.1:p.Leu3509Pro
XM_011514687.1:c.*31T>C	XP_011512989.1:n.*31T>C
XM_011514690.1:c.5312T>C	XP_011512992.1:p.Leu1771Pro
XM_011514690.3:c.5312T>C	XP_011512992.1:p.Leu1771Pro
XM_011514691.1:c.5312T>C	XP_011512993.1:p.Leu1771Pro
XM_011514691.3:c.5312T>C	XP_011512993.1:p.Leu1771Pro
XM_017010944.2:c.11237T>C	XP_016866433.1:p.Leu3746Pro
XM_017010945.2:c.11162T>C	XP_016866434.1:p.Leu3721Pro
XM_017010946.2:c.11042T>C	XP_016866435.1:p.Leu3681Pro
XM_017010947.2:c.10973T>C	XP_016866436.1:p.Leu3658Pro
XM_017010948.2:c.10526T>C	XP_016866437.1:p.Leu3509Pro
XM_017010949.2:c.9377T>C	XP_016866438.1:p.Leu3126Pro
XR_001743469.1:n.11513T>C