Canonical Allele Identifier: CA1628502115
Community Standard Title: NM_138694.4(PKHD1):c.9683C= (p.Ser3228=)
Gene: PKHD1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.51747933G= , CM000668.2:g.51747933G= GRCh38
NC_000006.11:g.51612731G= , CM000668.1:g.51612731G= GRCh37
NC_000006.10:g.51720690G= NCBI36
NG_008753.1:g.344693C=

Transcript Alleles

HGVS Amino-acid Change
NM_138694.4:c.9683C= MANE Select NP_619639.3:p.Ser3228=
ENST00000371117.8:c.9683C= MANE Select ENSP00000360158.3:p.Ser3228=
NM_138694.3:c.9683C= NP_619639.3:p.Ser3228=
NM_170724.2:c.9683C= NP_733842.2:p.Ser3228=
NM_170724.3:c.9683C= NP_733842.2:p.Ser3228=
ENST00000340994.4:c.9683C= ENSP00000341097.4:p.Ser3228=
ENST00000371117.7:c.9683C= ENSP00000360158.3:p.Ser3228=
XM_011514679.1:c.9683C= XP_011512981.1:p.Ser3228=
XM_011514680.1:c.9683C= XP_011512982.1:p.Ser3228=
XM_011514680.3:c.9683C= XP_011512982.1:p.Ser3228=
XM_011514681.1:c.9554C= XP_011512983.1:p.Ser3185=
XM_011514682.1:c.9545C= XP_011512984.1:p.Ser3182=
XM_011514682.3:c.9545C= XP_011512984.1:p.Ser3182=
XM_011514683.1:c.9041C= XP_011512985.1:p.Ser3014=
XM_011514683.3:c.9041C= XP_011512985.1:p.Ser3014=
XM_011514684.1:c.8972C= XP_011512986.1:p.Ser2991=
XM_011514684.3:c.8972C= XP_011512986.1:p.Ser2991=
XM_011514685.1:c.9683C= XP_011512987.1:p.Ser3228=
XM_011514686.1:c.9683C= XP_011512988.1:p.Ser3228=
XM_011514686.2:c.9683C= XP_011512988.1:p.Ser3228=
XM_011514687.1:c.9683C= XP_011512989.1:p.Ser3228=
XM_011514688.1:c.9683C= XP_011512990.1:p.Ser3228=
XM_011514688.2:c.9683C= XP_011512990.1:p.Ser3228=
XM_011514690.1:c.3758C= XP_011512992.1:p.Ser1253=
XM_011514690.3:c.3758C= XP_011512992.1:p.Ser1253=
XM_011514691.1:c.3758C= XP_011512993.1:p.Ser1253=
XM_011514691.3:c.3758C= XP_011512993.1:p.Ser1253=
XM_017010944.2:c.9683C= XP_016866433.1:p.Ser3228=
XM_017010945.2:c.9608C= XP_016866434.1:p.Ser3203=
XM_017010946.2:c.9488C= XP_016866435.1:p.Ser3163=
XM_017010947.2:c.9419C= XP_016866436.1:p.Ser3140=
XM_017010948.2:c.8972C= XP_016866437.1:p.Ser2991=
XM_017010949.2:c.7823C= XP_016866438.1:p.Ser2608=
XM_017010950.1:c.9683C= XP_016866439.1:p.Ser3228=
XR_001743469.1:n.9959C=