Canonical Allele Identifier: CA450613980
Gene: PKHD1 HGNC NCBI

Linked Data

MyVariant Identifiers: chr6:g.51889748A>C (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.52024950A>C , CM000668.2:g.52024950A>C GRCh38
NC_000006.11:g.51889748A>C , CM000668.1:g.51889748A>C GRCh37
NC_000006.10:g.51997707A>C NCBI36
NG_008753.1:g.67676T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000371117.8:c.4860T>G MANE Select ENSP00000360158.3:p.Ala1620=
ENST00000340994.4:c.4860T>G ENSP00000341097.4:p.Ala1620=
ENST00000371117.7:c.4860T>G ENSP00000360158.3:p.Ala1620=
NM_138694.3:c.4860T>G NP_619639.3:p.Ala1620=
NM_170724.2:c.4860T>G NP_733842.2:p.Ala1620=
XM_011514679.1:c.4860T>G XP_011512981.1:p.Ala1620=
XM_011514680.1:c.4860T>G XP_011512982.1:p.Ala1620=
XM_011514681.1:c.4860T>G XP_011512983.1:p.Ala1620=
XM_011514682.1:c.4860T>G XP_011512984.1:p.Ala1620=
XM_011514683.1:c.4218T>G XP_011512985.1:p.Ala1406=
XM_011514684.1:c.4149T>G XP_011512986.1:p.Ala1383=
XM_011514685.1:c.4860T>G XP_011512987.1:p.Ala1620=
XM_011514686.1:c.4860T>G XP_011512988.1:p.Ala1620=
XM_011514687.1:c.4860T>G XP_011512989.1:p.Ala1620=
XM_011514688.1:c.4860T>G XP_011512990.1:p.Ala1620=
XM_011514689.1:c.4860T>G XP_011512991.1:p.Ala1620=
XM_011514680.3:c.4860T>G XP_011512982.1:p.Ala1620=
XM_011514682.3:c.4860T>G XP_011512984.1:p.Ala1620=
XM_011514683.3:c.4218T>G XP_011512985.1:p.Ala1406=
XM_011514684.3:c.4149T>G XP_011512986.1:p.Ala1383=
XM_011514686.2:c.4860T>G XP_011512988.1:p.Ala1620=
XM_011514688.2:c.4860T>G XP_011512990.1:p.Ala1620=
XM_017010944.2:c.4860T>G XP_016866433.1:p.Ala1620=
XM_017010945.2:c.4785T>G XP_016866434.1:p.Ala1595=
XM_017010946.2:c.4860T>G XP_016866435.1:p.Ala1620=
XM_017010947.2:c.4596T>G XP_016866436.1:p.Ala1532=
XM_017010948.2:c.4149T>G XP_016866437.1:p.Ala1383=
XM_017010949.2:c.3000T>G XP_016866438.1:p.Ala1000=
XM_017010950.1:c.4860T>G XP_016866439.1:p.Ala1620=
XM_017010951.1:c.4860T>G XP_016866440.1:p.Ala1620=
XM_017010952.1:c.4860T>G XP_016866441.1:p.Ala1620=
XR_001743469.1:n.5136T>G
NM_138694.4:c.4860T>G MANE Select NP_619639.3:p.Ala1620=
NM_170724.3:c.4860T>G NP_733842.2:p.Ala1620=