Canonical Allele Identifier: CA450613775

Gene: PKHD1

Linked Data

• MyVariant Identifiers: chr6:g.51613306T>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.51748508T>G , CM000668.2:g.51748508T>G	GRCh38
NC_000006.11:g.51613306T>G , CM000668.1:g.51613306T>G	GRCh37
NC_000006.10:g.51721265T>G	NCBI36
NG_008753.1:g.344118A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000371117.8:c.9108A>C MANE Select	ENSP00000360158.3:p.Val3036=
ENST00000340994.4:c.9108A>C	ENSP00000341097.4:p.Val3036=
ENST00000371117.7:c.9108A>C	ENSP00000360158.3:p.Val3036=
NM_138694.3:c.9108A>C	NP_619639.3:p.Val3036=
NM_170724.2:c.9108A>C	NP_733842.2:p.Val3036=
XM_011514679.1:c.9108A>C	XP_011512981.1:p.Val3036=
XM_011514680.1:c.9108A>C	XP_011512982.1:p.Val3036=
XM_011514681.1:c.8979A>C	XP_011512983.1:p.Val2993=
XM_011514682.1:c.8970A>C	XP_011512984.1:p.Val2990=
XM_011514683.1:c.8466A>C	XP_011512985.1:p.Val2822=
XM_011514684.1:c.8397A>C	XP_011512986.1:p.Val2799=
XM_011514685.1:c.9108A>C	XP_011512987.1:p.Val3036=
XM_011514686.1:c.9108A>C	XP_011512988.1:p.Val3036=
XM_011514687.1:c.9108A>C	XP_011512989.1:p.Val3036=
XM_011514688.1:c.9108A>C	XP_011512990.1:p.Val3036=
XM_011514690.1:c.3183A>C	XP_011512992.1:p.Val1061=
XM_011514691.1:c.3183A>C	XP_011512993.1:p.Val1061=
XM_011514680.3:c.9108A>C	XP_011512982.1:p.Val3036=
XM_011514682.3:c.8970A>C	XP_011512984.1:p.Val2990=
XM_011514683.3:c.8466A>C	XP_011512985.1:p.Val2822=
XM_011514684.3:c.8397A>C	XP_011512986.1:p.Val2799=
XM_011514686.2:c.9108A>C	XP_011512988.1:p.Val3036=
XM_011514688.2:c.9108A>C	XP_011512990.1:p.Val3036=
XM_011514690.3:c.3183A>C	XP_011512992.1:p.Val1061=
XM_011514691.3:c.3183A>C	XP_011512993.1:p.Val1061=
XM_017010944.2:c.9108A>C	XP_016866433.1:p.Val3036=
XM_017010945.2:c.9033A>C	XP_016866434.1:p.Val3011=
XM_017010946.2:c.8913A>C	XP_016866435.1:p.Val2971=
XM_017010947.2:c.8844A>C	XP_016866436.1:p.Val2948=
XM_017010948.2:c.8397A>C	XP_016866437.1:p.Val2799=
XM_017010949.2:c.7248A>C	XP_016866438.1:p.Val2416=
XM_017010950.1:c.9108A>C	XP_016866439.1:p.Val3036=
XR_001743469.1:n.9384A>C
NM_138694.4:c.9108A>C MANE Select	NP_619639.3:p.Val3036=
NM_170724.3:c.9108A>C	NP_733842.2:p.Val3036=