Canonical Allele Identifier: CA13271883

Gene: PANK1

Linked Data

• dbSNP Id: rs11185790
• gnomAD v2: 10-91372533-G-A
• gnomAD v3: 10-89612776-G-A
• gnomAD v4: 10-89612776-G-A
• MyVariant Identifiers: chr10:g.91372533G>A (hg19) ; chr10:g.89612776G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.89612776G>A , CM000672.2:g.89612776G>A	GRCh38
NC_000010.10:g.91372533G>A , CM000672.1:g.91372533G>A	GRCh37
NC_000010.9:g.91362513G>A	NCBI36
NG_029474.1:g.37797C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000342512.4:c.29-728C>T	ENSP00000345118.3:n.29-728C>T
ENST00000307534.10:c.293-728C>T MANE Select	ENSP00000302108.5:n.293-728C>T
ENST00000307534.8:c.704-728C>T	ENSP00000302108.4:n.704-728C>T
ENST00000322191.10:c.29-728C>T	ENSP00000318526.6:n.29-728C>T
ENST00000342512.3:c.29-728C>T	ENSP00000345118.3:n.29-728C>T
NM_138316.3:c.29-728C>T	NP_612189.2:n.29-728C>T
NM_148977.2:c.704-728C>T	NP_683878.1:n.704-728C>T
NM_148978.2:c.29-728C>T	NP_683879.1:n.29-728C>T
XM_005269902.2:c.704-728C>T	XP_005269959.1:n.704-728C>T
XM_017016333.2:c.110-728C>T	XP_016871822.1:n.110-728C>T
XM_017016334.1:c.74-728C>T	XP_016871823.1:n.74-728C>T
XM_017016335.1:c.23-728C>T	XP_016871824.1:n.23-728C>T
XM_017016336.1:c.17-728C>T	XP_016871825.1:n.17-728C>T
XM_017016337.1:c.-17-728C>T	XP_016871826.1:n.-17-728C>T
XM_024448040.1:c.23-728C>T	XP_024303808.1:n.23-728C>T
XM_024448041.1:c.23-728C>T	XP_024303809.1:n.23-728C>T
NM_138316.4:c.29-728C>T	NP_612189.2:n.29-728C>T
NM_148978.3:c.29-728C>T	NP_683879.1:n.29-728C>T
NM_148977.3:c.293-728C>T MANE Select	NP_683878.2:n.293-728C>T