Canonical Allele Identifier: CA364426347

Gene: PKHD1

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.51649172A>C , CM000668.2:g.51649172A>C	GRCh38
NC_000006.11:g.51513970A>C , CM000668.1:g.51513970A>C	GRCh37
NC_000006.10:g.51621929A>C	NCBI36
NG_008753.1:g.443454T>G

Transcript Alleles

HGVS	Amino-acid Change
NM_138694.4:c.11223T>G MANE Select	NP_619639.3:p.Tyr3741Ter
ENST00000371117.8:c.11223T>G MANE Select	ENSP00000360158.3:p.Tyr3741Ter
NM_138694.3:c.11223T>G	NP_619639.3:p.Tyr3741Ter
ENST00000371117.7:c.11223T>G	ENSP00000360158.3:p.Tyr3741Ter
XM_011514679.1:c.11223T>G	XP_011512981.1:p.Tyr3741Ter
XM_011514680.1:c.11223T>G	XP_011512982.1:p.Tyr3741Ter
XM_011514680.3:c.11223T>G	XP_011512982.1:p.Tyr3741Ter
XM_011514681.1:c.11094T>G	XP_011512983.1:p.Tyr3698Ter
XM_011514682.1:c.11085T>G	XP_011512984.1:p.Tyr3695Ter
XM_011514682.3:c.11085T>G	XP_011512984.1:p.Tyr3695Ter
XM_011514683.1:c.10581T>G	XP_011512985.1:p.Tyr3527Ter
XM_011514683.3:c.10581T>G	XP_011512985.1:p.Tyr3527Ter
XM_011514684.1:c.10512T>G	XP_011512986.1:p.Tyr3504Ter
XM_011514684.3:c.10512T>G	XP_011512986.1:p.Tyr3504Ter
XM_011514687.1:c.*17T>G	XP_011512989.1:n.*17T>G
XM_011514690.1:c.5298T>G	XP_011512992.1:p.Tyr1766Ter
XM_011514690.3:c.5298T>G	XP_011512992.1:p.Tyr1766Ter
XM_011514691.1:c.5298T>G	XP_011512993.1:p.Tyr1766Ter
XM_011514691.3:c.5298T>G	XP_011512993.1:p.Tyr1766Ter
XM_017010944.2:c.11223T>G	XP_016866433.1:p.Tyr3741Ter
XM_017010945.2:c.11148T>G	XP_016866434.1:p.Tyr3716Ter
XM_017010946.2:c.11028T>G	XP_016866435.1:p.Tyr3676Ter
XM_017010947.2:c.10959T>G	XP_016866436.1:p.Tyr3653Ter
XM_017010948.2:c.10512T>G	XP_016866437.1:p.Tyr3504Ter
XM_017010949.2:c.9363T>G	XP_016866438.1:p.Tyr3121Ter
XR_001743469.1:n.11499T>G