Canonical Allele Identifier: CA364423467

Gene: PKHD1

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.51748464A>G , CM000668.2:g.51748464A>G	GRCh38
NC_000006.11:g.51613262A>G , CM000668.1:g.51613262A>G	GRCh37
NC_000006.10:g.51721221A>G	NCBI36
NG_008753.1:g.344162T>C

Transcript Alleles

HGVS	Amino-acid Change
NM_138694.4:c.9152T>C MANE Select	NP_619639.3:p.Ile3051Thr
ENST00000371117.8:c.9152T>C MANE Select	ENSP00000360158.3:p.Ile3051Thr
NM_138694.3:c.9152T>C	NP_619639.3:p.Ile3051Thr
NM_170724.2:c.9152T>C	NP_733842.2:p.Ile3051Thr
NM_170724.3:c.9152T>C	NP_733842.2:p.Ile3051Thr
ENST00000340994.4:c.9152T>C	ENSP00000341097.4:p.Ile3051Thr
ENST00000371117.7:c.9152T>C	ENSP00000360158.3:p.Ile3051Thr
XM_011514679.1:c.9152T>C	XP_011512981.1:p.Ile3051Thr
XM_011514680.1:c.9152T>C	XP_011512982.1:p.Ile3051Thr
XM_011514680.3:c.9152T>C	XP_011512982.1:p.Ile3051Thr
XM_011514681.1:c.9023T>C	XP_011512983.1:p.Ile3008Thr
XM_011514682.1:c.9014T>C	XP_011512984.1:p.Ile3005Thr
XM_011514682.3:c.9014T>C	XP_011512984.1:p.Ile3005Thr
XM_011514683.1:c.8510T>C	XP_011512985.1:p.Ile2837Thr
XM_011514683.3:c.8510T>C	XP_011512985.1:p.Ile2837Thr
XM_011514684.1:c.8441T>C	XP_011512986.1:p.Ile2814Thr
XM_011514684.3:c.8441T>C	XP_011512986.1:p.Ile2814Thr
XM_011514685.1:c.9152T>C	XP_011512987.1:p.Ile3051Thr
XM_011514686.1:c.9152T>C	XP_011512988.1:p.Ile3051Thr
XM_011514686.2:c.9152T>C	XP_011512988.1:p.Ile3051Thr
XM_011514687.1:c.9152T>C	XP_011512989.1:p.Ile3051Thr
XM_011514688.1:c.9152T>C	XP_011512990.1:p.Ile3051Thr
XM_011514688.2:c.9152T>C	XP_011512990.1:p.Ile3051Thr
XM_011514690.1:c.3227T>C	XP_011512992.1:p.Ile1076Thr
XM_011514690.3:c.3227T>C	XP_011512992.1:p.Ile1076Thr
XM_011514691.1:c.3227T>C	XP_011512993.1:p.Ile1076Thr
XM_011514691.3:c.3227T>C	XP_011512993.1:p.Ile1076Thr
XM_017010944.2:c.9152T>C	XP_016866433.1:p.Ile3051Thr
XM_017010945.2:c.9077T>C	XP_016866434.1:p.Ile3026Thr
XM_017010946.2:c.8957T>C	XP_016866435.1:p.Ile2986Thr
XM_017010947.2:c.8888T>C	XP_016866436.1:p.Ile2963Thr
XM_017010948.2:c.8441T>C	XP_016866437.1:p.Ile2814Thr
XM_017010949.2:c.7292T>C	XP_016866438.1:p.Ile2431Thr
XM_017010950.1:c.9152T>C	XP_016866439.1:p.Ile3051Thr
XR_001743469.1:n.9428T>C