Canonical Allele Identifier: CA364418070
Community Standard Title: NM_138694.4(PKHD1):c.10134G>A (p.Trp3378Ter)
Gene: PKHD1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.51744407C>T , CM000668.2:g.51744407C>T GRCh38
NC_000006.11:g.51609205C>T , CM000668.1:g.51609205C>T GRCh37
NC_000006.10:g.51717164C>T NCBI36
NG_008753.1:g.348219G>A

Transcript Alleles

HGVS Amino-acid Change
NM_138694.4:c.10134G>A MANE Select NP_619639.3:p.Trp3378Ter
ENST00000371117.8:c.10134G>A MANE Select ENSP00000360158.3:p.Trp3378Ter
NM_138694.3:c.10134G>A NP_619639.3:p.Trp3378Ter
NM_170724.2:c.10134G>A NP_733842.2:p.Trp3378Ter
NM_170724.3:c.10134G>A NP_733842.2:p.Trp3378Ter
ENST00000340994.4:c.10134G>A ENSP00000341097.4:p.Trp3378Ter
ENST00000371117.7:c.10134G>A ENSP00000360158.3:p.Trp3378Ter
XM_011514679.1:c.10134G>A XP_011512981.1:p.Trp3378Ter
XM_011514680.1:c.10134G>A XP_011512982.1:p.Trp3378Ter
XM_011514680.3:c.10134G>A XP_011512982.1:p.Trp3378Ter
XM_011514681.1:c.10005G>A XP_011512983.1:p.Trp3335Ter
XM_011514682.1:c.9996G>A XP_011512984.1:p.Trp3332Ter
XM_011514682.3:c.9996G>A XP_011512984.1:p.Trp3332Ter
XM_011514683.1:c.9492G>A XP_011512985.1:p.Trp3164Ter
XM_011514683.3:c.9492G>A XP_011512985.1:p.Trp3164Ter
XM_011514684.1:c.9423G>A XP_011512986.1:p.Trp3141Ter
XM_011514684.3:c.9423G>A XP_011512986.1:p.Trp3141Ter
XM_011514685.1:c.10134G>A XP_011512987.1:p.Trp3378Ter
XM_011514686.1:c.10134G>A XP_011512988.1:p.Trp3378Ter
XM_011514686.2:c.10134G>A XP_011512988.1:p.Trp3378Ter
XM_011514687.1:c.10134G>A XP_011512989.1:p.Trp3378Ter
XM_011514690.1:c.4209G>A XP_011512992.1:p.Trp1403Ter
XM_011514690.3:c.4209G>A XP_011512992.1:p.Trp1403Ter
XM_011514691.1:c.4209G>A XP_011512993.1:p.Trp1403Ter
XM_011514691.3:c.4209G>A XP_011512993.1:p.Trp1403Ter
XM_017010944.2:c.10134G>A XP_016866433.1:p.Trp3378Ter
XM_017010945.2:c.10059G>A XP_016866434.1:p.Trp3353Ter
XM_017010946.2:c.9939G>A XP_016866435.1:p.Trp3313Ter
XM_017010947.2:c.9870G>A XP_016866436.1:p.Trp3290Ter
XM_017010948.2:c.9423G>A XP_016866437.1:p.Trp3141Ter
XM_017010949.2:c.8274G>A XP_016866438.1:p.Trp2758Ter
XM_017010950.1:c.10134G>A XP_016866439.1:p.Trp3378Ter
XR_001743469.1:n.10410G>A