Canonical Allele Identifier: CA3853786

Gene: PKHD1

Linked Data

• ClinVar Variation Id: 971695
• ClinVar RCV Id: RCV001247534 ; RCV002480849
• dbSNP Id: rs747117144
• ExAC: 6:51934294 T / C
• gnomAD v2: 6-51934294-T-C
• gnomAD v3: 6-52069496-T-C
• gnomAD v4: 6-52069496-T-C
• MyVariant Identifiers: chr6:g.51934294T>C (hg19) ; chr6:g.52069496T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.52069496T>C , CM000668.2:g.52069496T>C	GRCh38
NC_000006.11:g.51934294T>C , CM000668.1:g.51934294T>C	GRCh37
NC_000006.10:g.52042253T>C	NCBI36
NG_008753.1:g.23130A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000371117.8:c.739A>G MANE Select	ENSP00000360158.3:p.Ser247Gly
ENST00000340994.4:c.739A>G	ENSP00000341097.4:p.Ser247Gly
ENST00000371117.7:c.739A>G	ENSP00000360158.3:p.Ser247Gly
NM_138694.3:c.739A>G	NP_619639.3:p.Ser247Gly
NM_170724.2:c.739A>G	NP_733842.2:p.Ser247Gly
XM_011514679.1:c.739A>G	XP_011512981.1:p.Ser247Gly
XM_011514680.1:c.739A>G	XP_011512982.1:p.Ser247Gly
XM_011514681.1:c.739A>G	XP_011512983.1:p.Ser247Gly
XM_011514682.1:c.739A>G	XP_011512984.1:p.Ser247Gly
XM_011514683.1:c.739A>G	XP_011512985.1:p.Ser247Gly
XM_011514684.1:c.28A>G	XP_011512986.1:p.Ser10Gly
XM_011514685.1:c.739A>G	XP_011512987.1:p.Ser247Gly
XM_011514686.1:c.739A>G	XP_011512988.1:p.Ser247Gly
XM_011514687.1:c.739A>G	XP_011512989.1:p.Ser247Gly
XM_011514688.1:c.739A>G	XP_011512990.1:p.Ser247Gly
XM_011514689.1:c.739A>G	XP_011512991.1:p.Ser247Gly
XR_926869.1:n.389+300T>C
XM_011514680.3:c.739A>G	XP_011512982.1:p.Ser247Gly
XM_011514682.3:c.739A>G	XP_011512984.1:p.Ser247Gly
XM_011514683.3:c.739A>G	XP_011512985.1:p.Ser247Gly
XM_011514684.3:c.28A>G	XP_011512986.1:p.Ser10Gly
XM_011514686.2:c.739A>G	XP_011512988.1:p.Ser247Gly
XM_011514688.2:c.739A>G	XP_011512990.1:p.Ser247Gly
XM_017010944.2:c.739A>G	XP_016866433.1:p.Ser247Gly
XM_017010945.2:c.664A>G	XP_016866434.1:p.Ser222Gly
XM_017010946.2:c.739A>G	XP_016866435.1:p.Ser247Gly
XM_017010947.2:c.739A>G	XP_016866436.1:p.Ser247Gly
XM_017010948.2:c.28A>G	XP_016866437.1:p.Ser10Gly
XM_017010950.1:c.739A>G	XP_016866439.1:p.Ser247Gly
XM_017010951.1:c.739A>G	XP_016866440.1:p.Ser247Gly
XM_017010952.1:c.739A>G	XP_016866441.1:p.Ser247Gly
XR_001743469.1:n.1015A>G
NM_138694.4:c.739A>G MANE Select	NP_619639.3:p.Ser247Gly
NM_170724.3:c.739A>G	NP_733842.2:p.Ser247Gly