Canonical Allele Identifier: CA138875945
Gene: PKHD1 HGNC NCBI

Linked Data

dbSNP Id: rs776394761
gnomAD v4: 6-51627078-T-G

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.51627078T>G , CM000668.2:g.51627078T>G GRCh38
NC_000006.11:g.51491876T>G , CM000668.1:g.51491876T>G GRCh37
NC_000006.10:g.51599835T>G NCBI36
NG_008753.1:g.465548A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000371117.8:c.11704A>C MANE Select ENSP00000360158.3:p.Asn3902His
ENST00000371117.7:c.11704A>C ENSP00000360158.3:p.Asn3902His
NM_138694.3:c.11704A>C NP_619639.3:p.Asn3902His
XM_011514679.1:c.11704A>C XP_011512981.1:p.Asn3902His
XM_011514680.1:c.11704A>C XP_011512982.1:p.Asn3902His
XM_011514681.1:c.11575A>C XP_011512983.1:p.Asn3859His
XM_011514682.1:c.11566A>C XP_011512984.1:p.Asn3856His
XM_011514683.1:c.11062A>C XP_011512985.1:p.Asn3688His
XM_011514684.1:c.10993A>C XP_011512986.1:p.Asn3665His
XM_011514690.1:c.5779A>C XP_011512992.1:p.Asn1927His
XM_011514691.1:c.5779A>C XP_011512993.1:p.Asn1927His
XM_011514680.3:c.11704A>C XP_011512982.1:p.Asn3902His
XM_011514682.3:c.11566A>C XP_011512984.1:p.Asn3856His
XM_011514683.3:c.11062A>C XP_011512985.1:p.Asn3688His
XM_011514684.3:c.10993A>C XP_011512986.1:p.Asn3665His
XM_011514690.3:c.5779A>C XP_011512992.1:p.Asn1927His
XM_011514691.3:c.5779A>C XP_011512993.1:p.Asn1927His
XM_017010944.2:c.11704A>C XP_016866433.1:p.Asn3902His
XM_017010945.2:c.11629A>C XP_016866434.1:p.Asn3877His
XM_017010946.2:c.11509A>C XP_016866435.1:p.Asn3837His
XM_017010947.2:c.11440A>C XP_016866436.1:p.Asn3814His
XM_017010948.2:c.10993A>C XP_016866437.1:p.Asn3665His
XM_017010949.2:c.9844A>C XP_016866438.1:p.Asn3282His
NM_138694.4:c.11704A>C MANE Select NP_619639.3:p.Asn3902His