Canonical Allele Identifier: CA16041073
Gene: PKHD1 HGNC NCBI

Linked Data

ClinVar Variation Id: 371436
ClinVar RCV Id: RCV000410878
dbSNP Id: rs1057517270
MyVariant Identifiers: chr6:g.51941072A>G (hg19) chr6:g.52076274A>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.52076274A>G , CM000668.2:g.52076274A>G GRCh38
NC_000006.11:g.51941072A>G , CM000668.1:g.51941072A>G GRCh37
NC_000006.10:g.52049031A>G NCBI36
NG_008753.1:g.16352T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000371117.8:c.448+2T>C MANE Select ENSP00000360158.3:n.448+2T>C
ENST00000340994.4:c.448+2T>C ENSP00000341097.4:n.448+2T>C
ENST00000371117.7:c.448+2T>C ENSP00000360158.3:n.448+2T>C
NM_138694.3:c.448+2T>C NP_619639.3:n.448+2T>C
NM_170724.2:c.448+2T>C NP_733842.2:n.448+2T>C
XM_011514679.1:c.448+2T>C XP_011512981.1:n.448+2T>C
XM_011514680.1:c.448+2T>C XP_011512982.1:n.448+2T>C
XM_011514681.1:c.448+2T>C XP_011512983.1:n.448+2T>C
XM_011514682.1:c.448+2T>C XP_011512984.1:n.448+2T>C
XM_011514683.1:c.448+2T>C XP_011512985.1:n.448+2T>C
XM_011514685.1:c.448+2T>C XP_011512987.1:n.448+2T>C
XM_011514686.1:c.448+2T>C XP_011512988.1:n.448+2T>C
XM_011514687.1:c.448+2T>C XP_011512989.1:n.448+2T>C
XM_011514688.1:c.448+2T>C XP_011512990.1:n.448+2T>C
XM_011514689.1:c.448+2T>C XP_011512991.1:n.448+2T>C
XM_011514680.3:c.448+2T>C XP_011512982.1:n.448+2T>C
XM_011514682.3:c.448+2T>C XP_011512984.1:n.448+2T>C
XM_011514683.3:c.448+2T>C XP_011512985.1:n.448+2T>C
XM_011514686.2:c.448+2T>C XP_011512988.1:n.448+2T>C
XM_011514688.2:c.448+2T>C XP_011512990.1:n.448+2T>C
XM_017010944.2:c.448+2T>C XP_016866433.1:n.448+2T>C
XM_017010945.2:c.448+2T>C XP_016866434.1:n.448+2T>C
XM_017010946.2:c.448+2T>C XP_016866435.1:n.448+2T>C
XM_017010947.2:c.448+2T>C XP_016866436.1:n.448+2T>C
XM_017010950.1:c.448+2T>C XP_016866439.1:n.448+2T>C
XM_017010951.1:c.448+2T>C XP_016866440.1:n.448+2T>C
XM_017010952.1:c.448+2T>C XP_016866441.1:n.448+2T>C
XR_001743469.1:n.724+2T>C
NM_138694.4:c.448+2T>C MANE Select NP_619639.3:n.448+2T>C
NM_170724.3:c.448+2T>C NP_733842.2:n.448+2T>C
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