Canonical Allele Identifier: CA16041049
Gene: PKHD1 HGNC NCBI

Linked Data

ClinVar Variation Id: 370333
ClinVar RCV Id: RCV000409067 RCV001332899
dbSNP Id: rs1057516407
MyVariant Identifiers: chr6:g.51824826T>C (hg19) chr6:g.51960028T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.51960028T>C , CM000668.2:g.51960028T>C GRCh38
NC_000006.11:g.51824826T>C , CM000668.1:g.51824826T>C GRCh37
NC_000006.10:g.51932785T>C NCBI36
NG_008753.1:g.132598A>G

Transcript Alleles

HGVS Amino-acid change
ENST00000371117.8:c.5752-2A>G MANE Select ENSP00000360158.3:n.5752-2A>G
ENST00000340994.4:c.5752-2A>G ENSP00000341097.4:n.5752-2A>G
ENST00000371117.7:c.5752-2A>G ENSP00000360158.3:n.5752-2A>G
NM_138694.3:c.5752-2A>G NP_619639.3:n.5752-2A>G
NM_170724.2:c.5752-2A>G NP_733842.2:n.5752-2A>G
XM_011514679.1:c.5752-2A>G XP_011512981.1:n.5752-2A>G
XM_011514680.1:c.5752-2A>G XP_011512982.1:n.5752-2A>G
XM_011514681.1:c.5752-2A>G XP_011512983.1:n.5752-2A>G
XM_011514682.1:c.5752-2A>G XP_011512984.1:n.5752-2A>G
XM_011514683.1:c.5110-2A>G XP_011512985.1:n.5110-2A>G
XM_011514684.1:c.5041-2A>G XP_011512986.1:n.5041-2A>G
XM_011514685.1:c.5752-2A>G XP_011512987.1:n.5752-2A>G
XM_011514686.1:c.5752-2A>G XP_011512988.1:n.5752-2A>G
XM_011514687.1:c.5752-2A>G XP_011512989.1:n.5752-2A>G
XM_011514688.1:c.5752-2A>G XP_011512990.1:n.5752-2A>G
XM_011514689.1:c.5752-2A>G XP_011512991.1:n.5752-2A>G
XM_011514690.1:c.-17-25706A>G XP_011512992.1:n.-17-25706A>G
XM_011514680.3:c.5752-2A>G XP_011512982.1:n.5752-2A>G
XM_011514682.3:c.5752-2A>G XP_011512984.1:n.5752-2A>G
XM_011514683.3:c.5110-2A>G XP_011512985.1:n.5110-2A>G
XM_011514684.3:c.5041-2A>G XP_011512986.1:n.5041-2A>G
XM_011514686.2:c.5752-2A>G XP_011512988.1:n.5752-2A>G
XM_011514688.2:c.5752-2A>G XP_011512990.1:n.5752-2A>G
XM_011514690.3:c.-17-25706A>G XP_011512992.1:n.-17-25706A>G
XM_017010944.2:c.5752-2A>G XP_016866433.1:n.5752-2A>G
XM_017010945.2:c.5677-2A>G XP_016866434.1:n.5677-2A>G
XM_017010946.2:c.5752-2A>G XP_016866435.1:n.5752-2A>G
XM_017010947.2:c.5488-2A>G XP_016866436.1:n.5488-2A>G
XM_017010948.2:c.5041-2A>G XP_016866437.1:n.5041-2A>G
XM_017010949.2:c.3892-2A>G XP_016866438.1:n.3892-2A>G
XM_017010950.1:c.5752-2A>G XP_016866439.1:n.5752-2A>G
XM_017010951.1:c.5752-2A>G XP_016866440.1:n.5752-2A>G
XM_017010952.1:c.5752-2A>G XP_016866441.1:n.5752-2A>G
XR_001743469.1:n.6028-2A>G
NM_138694.4:c.5752-2A>G MANE Select NP_619639.3:n.5752-2A>G
NM_170724.3:c.5752-2A>G NP_733842.2:n.5752-2A>G
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