Canonical Allele Identifier: CA138892764

Gene: PKHD1

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.51649407T>C , CM000668.2:g.51649407T>C	GRCh38
NC_000006.11:g.51514205T>C , CM000668.1:g.51514205T>C	GRCh37
NC_000006.10:g.51622164T>C	NCBI36
NG_008753.1:g.443219A>G

Transcript Alleles

HGVS	Amino-acid Change
NM_138694.4:c.11175-187A>G MANE Select	NP_619639.3:n.11175-187A>G
ENST00000371117.8:c.11175-187A>G MANE Select	ENSP00000360158.3:n.11175-187A>G
NM_138694.3:c.11175-187A>G	NP_619639.3:n.11175-187A>G
ENST00000371117.7:c.11175-187A>G	ENSP00000360158.3:n.11175-187A>G
XM_011514679.1:c.11175-187A>G	XP_011512981.1:n.11175-187A>G
XM_011514680.1:c.11175-187A>G	XP_011512982.1:n.11175-187A>G
XM_011514680.3:c.11175-187A>G	XP_011512982.1:n.11175-187A>G
XM_011514681.1:c.11046-187A>G	XP_011512983.1:n.11046-187A>G
XM_011514682.1:c.11037-187A>G	XP_011512984.1:n.11037-187A>G
XM_011514682.3:c.11037-187A>G	XP_011512984.1:n.11037-187A>G
XM_011514683.1:c.10533-187A>G	XP_011512985.1:n.10533-187A>G
XM_011514683.3:c.10533-187A>G	XP_011512985.1:n.10533-187A>G
XM_011514684.1:c.10464-187A>G	XP_011512986.1:n.10464-187A>G
XM_011514684.3:c.10464-187A>G	XP_011512986.1:n.10464-187A>G
XM_011514687.1:c.10157-187A>G	XP_011512989.1:n.10157-187A>G
XM_011514690.1:c.5250-187A>G	XP_011512992.1:n.5250-187A>G
XM_011514690.3:c.5250-187A>G	XP_011512992.1:n.5250-187A>G
XM_011514691.1:c.5250-187A>G	XP_011512993.1:n.5250-187A>G
XM_011514691.3:c.5250-187A>G	XP_011512993.1:n.5250-187A>G
XM_017010944.2:c.11175-187A>G	XP_016866433.1:n.11175-187A>G
XM_017010945.2:c.11100-187A>G	XP_016866434.1:n.11100-187A>G
XM_017010946.2:c.10980-187A>G	XP_016866435.1:n.10980-187A>G
XM_017010947.2:c.10911-187A>G	XP_016866436.1:n.10911-187A>G
XM_017010948.2:c.10464-187A>G	XP_016866437.1:n.10464-187A>G
XM_017010949.2:c.9315-187A>G	XP_016866438.1:n.9315-187A>G
XR_001743469.1:n.11451-187A>G
XR_001744157.1:n.179T>C
XR_926870.2:n.179T>C
XR_926871.2:n.179T>C
XR_926872.2:n.179T>C