Canonical Allele Identifier: CA364421261

Gene: PKHD1

Linked Data

• gnomAD v4: 6-51748252-C-A
• MyVariant Identifiers: chr6:g.51613050C>A (hg19) ; chr6:g.51748252C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.51748252C>A , CM000668.2:g.51748252C>A	GRCh38
NC_000006.11:g.51613050C>A , CM000668.1:g.51613050C>A	GRCh37
NC_000006.10:g.51721009C>A	NCBI36
NG_008753.1:g.344374G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000371117.8:c.9364G>T MANE Select	ENSP00000360158.3:p.Val3122Leu
ENST00000340994.4:c.9364G>T	ENSP00000341097.4:p.Val3122Leu
ENST00000371117.7:c.9364G>T	ENSP00000360158.3:p.Val3122Leu
NM_138694.3:c.9364G>T	NP_619639.3:p.Val3122Leu
NM_170724.2:c.9364G>T	NP_733842.2:p.Val3122Leu
XM_011514679.1:c.9364G>T	XP_011512981.1:p.Val3122Leu
XM_011514680.1:c.9364G>T	XP_011512982.1:p.Val3122Leu
XM_011514681.1:c.9235G>T	XP_011512983.1:p.Val3079Leu
XM_011514682.1:c.9226G>T	XP_011512984.1:p.Val3076Leu
XM_011514683.1:c.8722G>T	XP_011512985.1:p.Val2908Leu
XM_011514684.1:c.8653G>T	XP_011512986.1:p.Val2885Leu
XM_011514685.1:c.9364G>T	XP_011512987.1:p.Val3122Leu
XM_011514686.1:c.9364G>T	XP_011512988.1:p.Val3122Leu
XM_011514687.1:c.9364G>T	XP_011512989.1:p.Val3122Leu
XM_011514688.1:c.9364G>T	XP_011512990.1:p.Val3122Leu
XM_011514690.1:c.3439G>T	XP_011512992.1:p.Val1147Leu
XM_011514691.1:c.3439G>T	XP_011512993.1:p.Val1147Leu
XM_011514680.3:c.9364G>T	XP_011512982.1:p.Val3122Leu
XM_011514682.3:c.9226G>T	XP_011512984.1:p.Val3076Leu
XM_011514683.3:c.8722G>T	XP_011512985.1:p.Val2908Leu
XM_011514684.3:c.8653G>T	XP_011512986.1:p.Val2885Leu
XM_011514686.2:c.9364G>T	XP_011512988.1:p.Val3122Leu
XM_011514688.2:c.9364G>T	XP_011512990.1:p.Val3122Leu
XM_011514690.3:c.3439G>T	XP_011512992.1:p.Val1147Leu
XM_011514691.3:c.3439G>T	XP_011512993.1:p.Val1147Leu
XM_017010944.2:c.9364G>T	XP_016866433.1:p.Val3122Leu
XM_017010945.2:c.9289G>T	XP_016866434.1:p.Val3097Leu
XM_017010946.2:c.9169G>T	XP_016866435.1:p.Val3057Leu
XM_017010947.2:c.9100G>T	XP_016866436.1:p.Val3034Leu
XM_017010948.2:c.8653G>T	XP_016866437.1:p.Val2885Leu
XM_017010949.2:c.7504G>T	XP_016866438.1:p.Val2502Leu
XM_017010950.1:c.9364G>T	XP_016866439.1:p.Val3122Leu
XR_001743469.1:n.9640G>T
NM_138694.4:c.9364G>T MANE Select	NP_619639.3:p.Val3122Leu
NM_170724.3:c.9364G>T	NP_733842.2:p.Val3122Leu