Canonical Allele Identifier: CA3851367

Gene: PKHD1

Linked Data

• dbSNP Id: rs759448380
• ExAC: 6:51612834 T / C
• gnomAD v2: 6-51612834-T-C
• gnomAD v3: 6-51748036-T-C
• gnomAD v4: 6-51748036-T-C
• MyVariant Identifiers: chr6:g.51612834T>C (hg19) ; chr6:g.51748036T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.51748036T>C , CM000668.2:g.51748036T>C	GRCh38
NC_000006.11:g.51612834T>C , CM000668.1:g.51612834T>C	GRCh37
NC_000006.10:g.51720793T>C	NCBI36
NG_008753.1:g.344590A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000371117.8:c.9580A>G MANE Select	ENSP00000360158.3:p.Lys3194Glu
ENST00000340994.4:c.9580A>G	ENSP00000341097.4:p.Lys3194Glu
ENST00000371117.7:c.9580A>G	ENSP00000360158.3:p.Lys3194Glu
NM_138694.3:c.9580A>G	NP_619639.3:p.Lys3194Glu
NM_170724.2:c.9580A>G	NP_733842.2:p.Lys3194Glu
XM_011514679.1:c.9580A>G	XP_011512981.1:p.Lys3194Glu
XM_011514680.1:c.9580A>G	XP_011512982.1:p.Lys3194Glu
XM_011514681.1:c.9451A>G	XP_011512983.1:p.Lys3151Glu
XM_011514682.1:c.9442A>G	XP_011512984.1:p.Lys3148Glu
XM_011514683.1:c.8938A>G	XP_011512985.1:p.Lys2980Glu
XM_011514684.1:c.8869A>G	XP_011512986.1:p.Lys2957Glu
XM_011514685.1:c.9580A>G	XP_011512987.1:p.Lys3194Glu
XM_011514686.1:c.9580A>G	XP_011512988.1:p.Lys3194Glu
XM_011514687.1:c.9580A>G	XP_011512989.1:p.Lys3194Glu
XM_011514688.1:c.9580A>G	XP_011512990.1:p.Lys3194Glu
XM_011514690.1:c.3655A>G	XP_011512992.1:p.Lys1219Glu
XM_011514691.1:c.3655A>G	XP_011512993.1:p.Lys1219Glu
XM_011514680.3:c.9580A>G	XP_011512982.1:p.Lys3194Glu
XM_011514682.3:c.9442A>G	XP_011512984.1:p.Lys3148Glu
XM_011514683.3:c.8938A>G	XP_011512985.1:p.Lys2980Glu
XM_011514684.3:c.8869A>G	XP_011512986.1:p.Lys2957Glu
XM_011514686.2:c.9580A>G	XP_011512988.1:p.Lys3194Glu
XM_011514688.2:c.9580A>G	XP_011512990.1:p.Lys3194Glu
XM_011514690.3:c.3655A>G	XP_011512992.1:p.Lys1219Glu
XM_011514691.3:c.3655A>G	XP_011512993.1:p.Lys1219Glu
XM_017010944.2:c.9580A>G	XP_016866433.1:p.Lys3194Glu
XM_017010945.2:c.9505A>G	XP_016866434.1:p.Lys3169Glu
XM_017010946.2:c.9385A>G	XP_016866435.1:p.Lys3129Glu
XM_017010947.2:c.9316A>G	XP_016866436.1:p.Lys3106Glu
XM_017010948.2:c.8869A>G	XP_016866437.1:p.Lys2957Glu
XM_017010949.2:c.7720A>G	XP_016866438.1:p.Lys2574Glu
XM_017010950.1:c.9580A>G	XP_016866439.1:p.Lys3194Glu
XR_001743469.1:n.9856A>G
NM_138694.4:c.9580A>G MANE Select	NP_619639.3:p.Lys3194Glu
NM_170724.3:c.9580A>G	NP_733842.2:p.Lys3194Glu