Canonical Allele Identifier: CA364418358

Gene: PKHD1

Linked Data

• dbSNP Id: rs1767324990
• gnomAD v3: 6-51627009-C-G
• gnomAD v4: 6-51627009-C-G
• MyVariant Identifiers: chr6:g.51491807C>G (hg19) ; chr6:g.51627009C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.51627009C>G , CM000668.2:g.51627009C>G	GRCh38
NC_000006.11:g.51491807C>G , CM000668.1:g.51491807C>G	GRCh37
NC_000006.10:g.51599766C>G	NCBI36
NG_008753.1:g.465617G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000371117.8:c.11773G>C MANE Select	ENSP00000360158.3:p.Val3925Leu
ENST00000371117.7:c.11773G>C	ENSP00000360158.3:p.Val3925Leu
NM_138694.3:c.11773G>C	NP_619639.3:p.Val3925Leu
XM_011514679.1:c.11773G>C	XP_011512981.1:p.Val3925Leu
XM_011514680.1:c.11773G>C	XP_011512982.1:p.Val3925Leu
XM_011514681.1:c.11644G>C	XP_011512983.1:p.Val3882Leu
XM_011514682.1:c.11635G>C	XP_011512984.1:p.Val3879Leu
XM_011514683.1:c.11131G>C	XP_011512985.1:p.Val3711Leu
XM_011514684.1:c.11062G>C	XP_011512986.1:p.Val3688Leu
XM_011514690.1:c.5848G>C	XP_011512992.1:p.Val1950Leu
XM_011514691.1:c.5848G>C	XP_011512993.1:p.Val1950Leu
XM_011514680.3:c.11773G>C	XP_011512982.1:p.Val3925Leu
XM_011514682.3:c.11635G>C	XP_011512984.1:p.Val3879Leu
XM_011514683.3:c.11131G>C	XP_011512985.1:p.Val3711Leu
XM_011514684.3:c.11062G>C	XP_011512986.1:p.Val3688Leu
XM_011514690.3:c.5848G>C	XP_011512992.1:p.Val1950Leu
XM_011514691.3:c.5848G>C	XP_011512993.1:p.Val1950Leu
XM_017010944.2:c.11773G>C	XP_016866433.1:p.Val3925Leu
XM_017010945.2:c.11698G>C	XP_016866434.1:p.Val3900Leu
XM_017010946.2:c.11578G>C	XP_016866435.1:p.Val3860Leu
XM_017010947.2:c.11509G>C	XP_016866436.1:p.Val3837Leu
XM_017010948.2:c.11062G>C	XP_016866437.1:p.Val3688Leu
XM_017010949.2:c.9913G>C	XP_016866438.1:p.Val3305Leu
NM_138694.4:c.11773G>C MANE Select	NP_619639.3:p.Val3925Leu