Canonical Allele Identifier: CA450411495

Gene: PKHD1

Linked Data

• COSMIC: COSM3874679
• MyVariant Identifiers: chr6:g.51491808A>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.51627010A>G , CM000668.2:g.51627010A>G	GRCh38
NC_000006.11:g.51491808A>G , CM000668.1:g.51491808A>G	GRCh37
NC_000006.10:g.51599767A>G	NCBI36
NG_008753.1:g.465616T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000371117.8:c.11772T>C MANE Select	ENSP00000360158.3:p.Thr3924=
ENST00000371117.7:c.11772T>C	ENSP00000360158.3:p.Thr3924=
NM_138694.3:c.11772T>C	NP_619639.3:p.Thr3924=
XM_011514679.1:c.11772T>C	XP_011512981.1:p.Thr3924=
XM_011514680.1:c.11772T>C	XP_011512982.1:p.Thr3924=
XM_011514681.1:c.11643T>C	XP_011512983.1:p.Thr3881=
XM_011514682.1:c.11634T>C	XP_011512984.1:p.Thr3878=
XM_011514683.1:c.11130T>C	XP_011512985.1:p.Thr3710=
XM_011514684.1:c.11061T>C	XP_011512986.1:p.Thr3687=
XM_011514690.1:c.5847T>C	XP_011512992.1:p.Thr1949=
XM_011514691.1:c.5847T>C	XP_011512993.1:p.Thr1949=
XM_011514680.3:c.11772T>C	XP_011512982.1:p.Thr3924=
XM_011514682.3:c.11634T>C	XP_011512984.1:p.Thr3878=
XM_011514683.3:c.11130T>C	XP_011512985.1:p.Thr3710=
XM_011514684.3:c.11061T>C	XP_011512986.1:p.Thr3687=
XM_011514690.3:c.5847T>C	XP_011512992.1:p.Thr1949=
XM_011514691.3:c.5847T>C	XP_011512993.1:p.Thr1949=
XM_017010944.2:c.11772T>C	XP_016866433.1:p.Thr3924=
XM_017010945.2:c.11697T>C	XP_016866434.1:p.Thr3899=
XM_017010946.2:c.11577T>C	XP_016866435.1:p.Thr3859=
XM_017010947.2:c.11508T>C	XP_016866436.1:p.Thr3836=
XM_017010948.2:c.11061T>C	XP_016866437.1:p.Thr3687=
XM_017010949.2:c.9912T>C	XP_016866438.1:p.Thr3304=
NM_138694.4:c.11772T>C MANE Select	NP_619639.3:p.Thr3924=