Canonical Allele Identifier: CA364416579

Gene: PKHD1

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.51791364A>G , CM000668.2:g.51791364A>G	GRCh38
NC_000006.11:g.51656162A>G , CM000668.1:g.51656162A>G	GRCh37
NC_000006.10:g.51764121A>G	NCBI36
NG_008753.1:g.301262T>C

Transcript Alleles

HGVS	Amino-acid Change
NM_138694.4:c.8312T>C MANE Select	NP_619639.3:p.Val2771Ala
ENST00000371117.8:c.8312T>C MANE Select	ENSP00000360158.3:p.Val2771Ala
NM_138694.3:c.8312T>C	NP_619639.3:p.Val2771Ala
NM_170724.2:c.8312T>C	NP_733842.2:p.Val2771Ala
NM_170724.3:c.8312T>C	NP_733842.2:p.Val2771Ala
ENST00000340994.4:c.8312T>C	ENSP00000341097.4:p.Val2771Ala
ENST00000371117.7:c.8312T>C	ENSP00000360158.3:p.Val2771Ala
XM_011514679.1:c.8312T>C	XP_011512981.1:p.Val2771Ala
XM_011514680.1:c.8312T>C	XP_011512982.1:p.Val2771Ala
XM_011514680.3:c.8312T>C	XP_011512982.1:p.Val2771Ala
XM_011514681.1:c.8183T>C	XP_011512983.1:p.Val2728Ala
XM_011514682.1:c.8303-15443T>C	XP_011512984.1:n.8303-15443T>C
XM_011514682.3:c.8303-15443T>C	XP_011512984.1:n.8303-15443T>C
XM_011514683.1:c.7670T>C	XP_011512985.1:p.Val2557Ala
XM_011514683.3:c.7670T>C	XP_011512985.1:p.Val2557Ala
XM_011514684.1:c.7601T>C	XP_011512986.1:p.Val2534Ala
XM_011514684.3:c.7601T>C	XP_011512986.1:p.Val2534Ala
XM_011514685.1:c.8312T>C	XP_011512987.1:p.Val2771Ala
XM_011514686.1:c.8312T>C	XP_011512988.1:p.Val2771Ala
XM_011514686.2:c.8312T>C	XP_011512988.1:p.Val2771Ala
XM_011514687.1:c.8312T>C	XP_011512989.1:p.Val2771Ala
XM_011514688.1:c.8312T>C	XP_011512990.1:p.Val2771Ala
XM_011514688.2:c.8312T>C	XP_011512990.1:p.Val2771Ala
XM_011514689.1:c.*18T>C	XP_011512991.1:n.*18T>C
XM_011514690.1:c.2387T>C	XP_011512992.1:p.Val796Ala
XM_011514690.3:c.2387T>C	XP_011512992.1:p.Val796Ala
XM_011514691.1:c.2387T>C	XP_011512993.1:p.Val796Ala
XM_011514691.3:c.2387T>C	XP_011512993.1:p.Val796Ala
XM_017010944.2:c.8312T>C	XP_016866433.1:p.Val2771Ala
XM_017010945.2:c.8237T>C	XP_016866434.1:p.Val2746Ala
XM_017010946.2:c.8117T>C	XP_016866435.1:p.Val2706Ala
XM_017010947.2:c.8048T>C	XP_016866436.1:p.Val2683Ala
XM_017010948.2:c.7601T>C	XP_016866437.1:p.Val2534Ala
XM_017010949.2:c.6452T>C	XP_016866438.1:p.Val2151Ala
XM_017010950.1:c.8312T>C	XP_016866439.1:p.Val2771Ala
XM_017010951.1:c.8312T>C	XP_016866440.1:p.Val2771Ala
XR_001743469.1:n.8588T>C