Canonical Allele Identifier: CA364418624

Gene: PKHD1

Linked Data

• MyVariant Identifiers: chr6:g.51491831G>C (hg19) ; chr6:g.51627033G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.51627033G>C , CM000668.2:g.51627033G>C	GRCh38
NC_000006.11:g.51491831G>C , CM000668.1:g.51491831G>C	GRCh37
NC_000006.10:g.51599790G>C	NCBI36
NG_008753.1:g.465593C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000371117.8:c.11749C>G MANE Select	ENSP00000360158.3:p.Gln3917Glu
ENST00000371117.7:c.11749C>G	ENSP00000360158.3:p.Gln3917Glu
NM_138694.3:c.11749C>G	NP_619639.3:p.Gln3917Glu
XM_011514679.1:c.11749C>G	XP_011512981.1:p.Gln3917Glu
XM_011514680.1:c.11749C>G	XP_011512982.1:p.Gln3917Glu
XM_011514681.1:c.11620C>G	XP_011512983.1:p.Gln3874Glu
XM_011514682.1:c.11611C>G	XP_011512984.1:p.Gln3871Glu
XM_011514683.1:c.11107C>G	XP_011512985.1:p.Gln3703Glu
XM_011514684.1:c.11038C>G	XP_011512986.1:p.Gln3680Glu
XM_011514690.1:c.5824C>G	XP_011512992.1:p.Gln1942Glu
XM_011514691.1:c.5824C>G	XP_011512993.1:p.Gln1942Glu
XM_011514680.3:c.11749C>G	XP_011512982.1:p.Gln3917Glu
XM_011514682.3:c.11611C>G	XP_011512984.1:p.Gln3871Glu
XM_011514683.3:c.11107C>G	XP_011512985.1:p.Gln3703Glu
XM_011514684.3:c.11038C>G	XP_011512986.1:p.Gln3680Glu
XM_011514690.3:c.5824C>G	XP_011512992.1:p.Gln1942Glu
XM_011514691.3:c.5824C>G	XP_011512993.1:p.Gln1942Glu
XM_017010944.2:c.11749C>G	XP_016866433.1:p.Gln3917Glu
XM_017010945.2:c.11674C>G	XP_016866434.1:p.Gln3892Glu
XM_017010946.2:c.11554C>G	XP_016866435.1:p.Gln3852Glu
XM_017010947.2:c.11485C>G	XP_016866436.1:p.Gln3829Glu
XM_017010948.2:c.11038C>G	XP_016866437.1:p.Gln3680Glu
XM_017010949.2:c.9889C>G	XP_016866438.1:p.Gln3297Glu
NM_138694.4:c.11749C>G MANE Select	NP_619639.3:p.Gln3917Glu