Canonical Allele Identifier: CA3850725

Gene: PKHD1

Linked Data

• dbSNP Id: rs755343599
• ExAC: 6:51491862 A / G
• gnomAD v2: 6-51491862-A-G
• gnomAD v4: 6-51627064-A-G
• MyVariant Identifiers: chr6:g.51491862A>G (hg19) ; chr6:g.51627064A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.51627064A>G , CM000668.2:g.51627064A>G	GRCh38
NC_000006.11:g.51491862A>G , CM000668.1:g.51491862A>G	GRCh37
NC_000006.10:g.51599821A>G	NCBI36
NG_008753.1:g.465562T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000371117.8:c.11718T>C MANE Select	ENSP00000360158.3:p.His3906=
ENST00000371117.7:c.11718T>C	ENSP00000360158.3:p.His3906=
NM_138694.3:c.11718T>C	NP_619639.3:p.His3906=
XM_011514679.1:c.11718T>C	XP_011512981.1:p.His3906=
XM_011514680.1:c.11718T>C	XP_011512982.1:p.His3906=
XM_011514681.1:c.11589T>C	XP_011512983.1:p.His3863=
XM_011514682.1:c.11580T>C	XP_011512984.1:p.His3860=
XM_011514683.1:c.11076T>C	XP_011512985.1:p.His3692=
XM_011514684.1:c.11007T>C	XP_011512986.1:p.His3669=
XM_011514690.1:c.5793T>C	XP_011512992.1:p.His1931=
XM_011514691.1:c.5793T>C	XP_011512993.1:p.His1931=
XM_011514680.3:c.11718T>C	XP_011512982.1:p.His3906=
XM_011514682.3:c.11580T>C	XP_011512984.1:p.His3860=
XM_011514683.3:c.11076T>C	XP_011512985.1:p.His3692=
XM_011514684.3:c.11007T>C	XP_011512986.1:p.His3669=
XM_011514690.3:c.5793T>C	XP_011512992.1:p.His1931=
XM_011514691.3:c.5793T>C	XP_011512993.1:p.His1931=
XM_017010944.2:c.11718T>C	XP_016866433.1:p.His3906=
XM_017010945.2:c.11643T>C	XP_016866434.1:p.His3881=
XM_017010946.2:c.11523T>C	XP_016866435.1:p.His3841=
XM_017010947.2:c.11454T>C	XP_016866436.1:p.His3818=
XM_017010948.2:c.11007T>C	XP_016866437.1:p.His3669=
XM_017010949.2:c.9858T>C	XP_016866438.1:p.His3286=
NM_138694.4:c.11718T>C MANE Select	NP_619639.3:p.His3906=