Canonical Allele Identifier: CA3851240
Community Standard Title: NM_138694.4(PKHD1):c.10153G>A (p.Ala3385Thr)
Gene: PKHD1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.51744388C>T , CM000668.2:g.51744388C>T GRCh38
NC_000006.11:g.51609186C>T , CM000668.1:g.51609186C>T GRCh37
NC_000006.10:g.51717145C>T NCBI36
NG_008753.1:g.348238G>A

Transcript Alleles

HGVS Amino-acid Change
NM_138694.4:c.10153G>A MANE Select NP_619639.3:p.Ala3385Thr
ENST00000371117.8:c.10153G>A MANE Select ENSP00000360158.3:p.Ala3385Thr
NM_138694.3:c.10153G>A NP_619639.3:p.Ala3385Thr
NM_170724.2:c.10153G>A NP_733842.2:p.Ala3385Thr
NM_170724.3:c.10153G>A NP_733842.2:p.Ala3385Thr
ENST00000340994.4:c.10153G>A ENSP00000341097.4:p.Ala3385Thr
ENST00000371117.7:c.10153G>A ENSP00000360158.3:p.Ala3385Thr
XM_011514679.1:c.10153G>A XP_011512981.1:p.Ala3385Thr
XM_011514680.1:c.10153G>A XP_011512982.1:p.Ala3385Thr
XM_011514680.3:c.10153G>A XP_011512982.1:p.Ala3385Thr
XM_011514681.1:c.10024G>A XP_011512983.1:p.Ala3342Thr
XM_011514682.1:c.10015G>A XP_011512984.1:p.Ala3339Thr
XM_011514682.3:c.10015G>A XP_011512984.1:p.Ala3339Thr
XM_011514683.1:c.9511G>A XP_011512985.1:p.Ala3171Thr
XM_011514683.3:c.9511G>A XP_011512985.1:p.Ala3171Thr
XM_011514684.1:c.9442G>A XP_011512986.1:p.Ala3148Thr
XM_011514684.3:c.9442G>A XP_011512986.1:p.Ala3148Thr
XM_011514685.1:c.10153G>A XP_011512987.1:p.Ala3385Thr
XM_011514686.1:c.10153G>A XP_011512988.1:p.Ala3385Thr
XM_011514686.2:c.10153G>A XP_011512988.1:p.Ala3385Thr
XM_011514687.1:c.10153G>A XP_011512989.1:p.Ala3385Thr
XM_011514690.1:c.4228G>A XP_011512992.1:p.Ala1410Thr
XM_011514690.3:c.4228G>A XP_011512992.1:p.Ala1410Thr
XM_011514691.1:c.4228G>A XP_011512993.1:p.Ala1410Thr
XM_011514691.3:c.4228G>A XP_011512993.1:p.Ala1410Thr
XM_017010944.2:c.10153G>A XP_016866433.1:p.Ala3385Thr
XM_017010945.2:c.10078G>A XP_016866434.1:p.Ala3360Thr
XM_017010946.2:c.9958G>A XP_016866435.1:p.Ala3320Thr
XM_017010947.2:c.9889G>A XP_016866436.1:p.Ala3297Thr
XM_017010948.2:c.9442G>A XP_016866437.1:p.Ala3148Thr
XM_017010949.2:c.8293G>A XP_016866438.1:p.Ala2765Thr
XM_017010950.1:c.10153G>A XP_016866439.1:p.Ala3385Thr
XR_001743469.1:n.10429G>A