Canonical Allele Identifier: CA364418369

Gene: PKHD1

Linked Data

• MyVariant Identifiers: chr6:g.51491809G>C (hg19) ; chr6:g.51627011G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.51627011G>C , CM000668.2:g.51627011G>C	GRCh38
NC_000006.11:g.51491809G>C , CM000668.1:g.51491809G>C	GRCh37
NC_000006.10:g.51599768G>C	NCBI36
NG_008753.1:g.465615C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000371117.8:c.11771C>G MANE Select	ENSP00000360158.3:p.Thr3924Ser
ENST00000371117.7:c.11771C>G	ENSP00000360158.3:p.Thr3924Ser
NM_138694.3:c.11771C>G	NP_619639.3:p.Thr3924Ser
XM_011514679.1:c.11771C>G	XP_011512981.1:p.Thr3924Ser
XM_011514680.1:c.11771C>G	XP_011512982.1:p.Thr3924Ser
XM_011514681.1:c.11642C>G	XP_011512983.1:p.Thr3881Ser
XM_011514682.1:c.11633C>G	XP_011512984.1:p.Thr3878Ser
XM_011514683.1:c.11129C>G	XP_011512985.1:p.Thr3710Ser
XM_011514684.1:c.11060C>G	XP_011512986.1:p.Thr3687Ser
XM_011514690.1:c.5846C>G	XP_011512992.1:p.Thr1949Ser
XM_011514691.1:c.5846C>G	XP_011512993.1:p.Thr1949Ser
XM_011514680.3:c.11771C>G	XP_011512982.1:p.Thr3924Ser
XM_011514682.3:c.11633C>G	XP_011512984.1:p.Thr3878Ser
XM_011514683.3:c.11129C>G	XP_011512985.1:p.Thr3710Ser
XM_011514684.3:c.11060C>G	XP_011512986.1:p.Thr3687Ser
XM_011514690.3:c.5846C>G	XP_011512992.1:p.Thr1949Ser
XM_011514691.3:c.5846C>G	XP_011512993.1:p.Thr1949Ser
XM_017010944.2:c.11771C>G	XP_016866433.1:p.Thr3924Ser
XM_017010945.2:c.11696C>G	XP_016866434.1:p.Thr3899Ser
XM_017010946.2:c.11576C>G	XP_016866435.1:p.Thr3859Ser
XM_017010947.2:c.11507C>G	XP_016866436.1:p.Thr3836Ser
XM_017010948.2:c.11060C>G	XP_016866437.1:p.Thr3687Ser
XM_017010949.2:c.9911C>G	XP_016866438.1:p.Thr3304Ser
NM_138694.4:c.11771C>G MANE Select	NP_619639.3:p.Thr3924Ser