Canonical Allele Identifier: CA364427145

Gene: PKHD1

Linked Data

• MyVariant Identifiers: chr6:g.51618120G>C (hg19) ; chr6:g.51753322G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.51753322G>C , CM000668.2:g.51753322G>C	GRCh38
NC_000006.11:g.51618120G>C , CM000668.1:g.51618120G>C	GRCh37
NC_000006.10:g.51726079G>C	NCBI36
NG_008753.1:g.339304C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000371117.8:c.8829C>G MANE Select	ENSP00000360158.3:p.His2943Gln
ENST00000340994.4:c.8829C>G	ENSP00000341097.4:p.His2943Gln
ENST00000371117.7:c.8829C>G	ENSP00000360158.3:p.His2943Gln
NM_138694.3:c.8829C>G	NP_619639.3:p.His2943Gln
NM_170724.2:c.8829C>G	NP_733842.2:p.His2943Gln
XM_011514679.1:c.8829C>G	XP_011512981.1:p.His2943Gln
XM_011514680.1:c.8829C>G	XP_011512982.1:p.His2943Gln
XM_011514681.1:c.8700C>G	XP_011512983.1:p.His2900Gln
XM_011514682.1:c.8691C>G	XP_011512984.1:p.His2897Gln
XM_011514683.1:c.8187C>G	XP_011512985.1:p.His2729Gln
XM_011514684.1:c.8118C>G	XP_011512986.1:p.His2706Gln
XM_011514685.1:c.8829C>G	XP_011512987.1:p.His2943Gln
XM_011514686.1:c.8829C>G	XP_011512988.1:p.His2943Gln
XM_011514687.1:c.8829C>G	XP_011512989.1:p.His2943Gln
XM_011514688.1:c.8829C>G	XP_011512990.1:p.His2943Gln
XM_011514690.1:c.2904C>G	XP_011512992.1:p.His968Gln
XM_011514691.1:c.2904C>G	XP_011512993.1:p.His968Gln
XM_011514680.3:c.8829C>G	XP_011512982.1:p.His2943Gln
XM_011514682.3:c.8691C>G	XP_011512984.1:p.His2897Gln
XM_011514683.3:c.8187C>G	XP_011512985.1:p.His2729Gln
XM_011514684.3:c.8118C>G	XP_011512986.1:p.His2706Gln
XM_011514686.2:c.8829C>G	XP_011512988.1:p.His2943Gln
XM_011514688.2:c.8829C>G	XP_011512990.1:p.His2943Gln
XM_011514690.3:c.2904C>G	XP_011512992.1:p.His968Gln
XM_011514691.3:c.2904C>G	XP_011512993.1:p.His968Gln
XM_017010944.2:c.8829C>G	XP_016866433.1:p.His2943Gln
XM_017010945.2:c.8754C>G	XP_016866434.1:p.His2918Gln
XM_017010946.2:c.8634C>G	XP_016866435.1:p.His2878Gln
XM_017010947.2:c.8565C>G	XP_016866436.1:p.His2855Gln
XM_017010948.2:c.8118C>G	XP_016866437.1:p.His2706Gln
XM_017010949.2:c.6969C>G	XP_016866438.1:p.His2323Gln
XM_017010950.1:c.8829C>G	XP_016866439.1:p.His2943Gln
XM_017010951.1:c.*1433C>G	XP_016866440.1:n.*1433C>G
XR_001743469.1:n.9105C>G
NM_138694.4:c.8829C>G MANE Select	NP_619639.3:p.His2943Gln
NM_170724.3:c.8829C>G	NP_733842.2:p.His2943Gln