Canonical Allele Identifier: CA364418433
Community Standard Title: NM_138694.4(PKHD1):c.10058T>A (p.Leu3353His)
Gene: PKHD1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.51744483A>T , CM000668.2:g.51744483A>T GRCh38
NC_000006.11:g.51609281A>T , CM000668.1:g.51609281A>T GRCh37
NC_000006.10:g.51717240A>T NCBI36
NG_008753.1:g.348143T>A

Transcript Alleles

HGVS Amino-acid Change
NM_138694.4:c.10058T>A MANE Select NP_619639.3:p.Leu3353His
ENST00000371117.8:c.10058T>A MANE Select ENSP00000360158.3:p.Leu3353His
NM_138694.3:c.10058T>A NP_619639.3:p.Leu3353His
NM_170724.2:c.10058T>A NP_733842.2:p.Leu3353His
NM_170724.3:c.10058T>A NP_733842.2:p.Leu3353His
ENST00000340994.4:c.10058T>A ENSP00000341097.4:p.Leu3353His
ENST00000371117.7:c.10058T>A ENSP00000360158.3:p.Leu3353His
XM_011514679.1:c.10058T>A XP_011512981.1:p.Leu3353His
XM_011514680.1:c.10058T>A XP_011512982.1:p.Leu3353His
XM_011514680.3:c.10058T>A XP_011512982.1:p.Leu3353His
XM_011514681.1:c.9929T>A XP_011512983.1:p.Leu3310His
XM_011514682.1:c.9920T>A XP_011512984.1:p.Leu3307His
XM_011514682.3:c.9920T>A XP_011512984.1:p.Leu3307His
XM_011514683.1:c.9416T>A XP_011512985.1:p.Leu3139His
XM_011514683.3:c.9416T>A XP_011512985.1:p.Leu3139His
XM_011514684.1:c.9347T>A XP_011512986.1:p.Leu3116His
XM_011514684.3:c.9347T>A XP_011512986.1:p.Leu3116His
XM_011514685.1:c.10058T>A XP_011512987.1:p.Leu3353His
XM_011514686.1:c.10058T>A XP_011512988.1:p.Leu3353His
XM_011514686.2:c.10058T>A XP_011512988.1:p.Leu3353His
XM_011514687.1:c.10058T>A XP_011512989.1:p.Leu3353His
XM_011514690.1:c.4133T>A XP_011512992.1:p.Leu1378His
XM_011514690.3:c.4133T>A XP_011512992.1:p.Leu1378His
XM_011514691.1:c.4133T>A XP_011512993.1:p.Leu1378His
XM_011514691.3:c.4133T>A XP_011512993.1:p.Leu1378His
XM_017010944.2:c.10058T>A XP_016866433.1:p.Leu3353His
XM_017010945.2:c.9983T>A XP_016866434.1:p.Leu3328His
XM_017010946.2:c.9863T>A XP_016866435.1:p.Leu3288His
XM_017010947.2:c.9794T>A XP_016866436.1:p.Leu3265His
XM_017010948.2:c.9347T>A XP_016866437.1:p.Leu3116His
XM_017010949.2:c.8198T>A XP_016866438.1:p.Leu2733His
XM_017010950.1:c.10058T>A XP_016866439.1:p.Leu3353His
XR_001743469.1:n.10334T>A