Canonical Allele Identifier: CA364433310
Community Standard Title: NM_138694.4(PKHD1):c.4417C>T (p.Gln1473Ter)
Gene: PKHD1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.52025393G>A , CM000668.2:g.52025393G>A GRCh38
NC_000006.11:g.51890191G>A , CM000668.1:g.51890191G>A GRCh37
NC_000006.10:g.51998150G>A NCBI36
NG_008753.1:g.67233C>T

Transcript Alleles

HGVS Amino-acid Change
NM_138694.4:c.4417C>T MANE Select NP_619639.3:p.Gln1473Ter
ENST00000371117.8:c.4417C>T MANE Select ENSP00000360158.3:p.Gln1473Ter
NM_138694.3:c.4417C>T NP_619639.3:p.Gln1473Ter
NM_170724.2:c.4417C>T NP_733842.2:p.Gln1473Ter
NM_170724.3:c.4417C>T NP_733842.2:p.Gln1473Ter
ENST00000340994.4:c.4417C>T ENSP00000341097.4:p.Gln1473Ter
ENST00000371117.7:c.4417C>T ENSP00000360158.3:p.Gln1473Ter
XM_011514679.1:c.4417C>T XP_011512981.1:p.Gln1473Ter
XM_011514680.1:c.4417C>T XP_011512982.1:p.Gln1473Ter
XM_011514680.3:c.4417C>T XP_011512982.1:p.Gln1473Ter
XM_011514681.1:c.4417C>T XP_011512983.1:p.Gln1473Ter
XM_011514682.1:c.4417C>T XP_011512984.1:p.Gln1473Ter
XM_011514682.3:c.4417C>T XP_011512984.1:p.Gln1473Ter
XM_011514683.1:c.4101+316C>T XP_011512985.1:n.4101+316C>T
XM_011514683.3:c.4101+316C>T XP_011512985.1:n.4101+316C>T
XM_011514684.1:c.3706C>T XP_011512986.1:p.Gln1236Ter
XM_011514684.3:c.3706C>T XP_011512986.1:p.Gln1236Ter
XM_011514685.1:c.4417C>T XP_011512987.1:p.Gln1473Ter
XM_011514686.1:c.4417C>T XP_011512988.1:p.Gln1473Ter
XM_011514686.2:c.4417C>T XP_011512988.1:p.Gln1473Ter
XM_011514687.1:c.4417C>T XP_011512989.1:p.Gln1473Ter
XM_011514688.1:c.4417C>T XP_011512990.1:p.Gln1473Ter
XM_011514688.2:c.4417C>T XP_011512990.1:p.Gln1473Ter
XM_011514689.1:c.4417C>T XP_011512991.1:p.Gln1473Ter
XM_017010944.2:c.4417C>T XP_016866433.1:p.Gln1473Ter
XM_017010945.2:c.4342C>T XP_016866434.1:p.Gln1448Ter
XM_017010946.2:c.4417C>T XP_016866435.1:p.Gln1473Ter
XM_017010947.2:c.4153C>T XP_016866436.1:p.Gln1385Ter
XM_017010948.2:c.3706C>T XP_016866437.1:p.Gln1236Ter
XM_017010949.2:c.2557C>T XP_016866438.1:p.Gln853Ter
XM_017010950.1:c.4417C>T XP_016866439.1:p.Gln1473Ter
XM_017010951.1:c.4417C>T XP_016866440.1:p.Gln1473Ter
XM_017010952.1:c.4417C>T XP_016866441.1:p.Gln1473Ter
XR_001743469.1:n.4693C>T