Canonical Allele Identifier: CA1144365

Gene: PKLR

Linked Data

• dbSNP Id: rs375544947
• ExAC: 1:155265443 G / A
• gnomAD v2: 1-155265443-G-A
• gnomAD v3: 1-155295652-G-A
• gnomAD v4: 1-155295652-G-A
• MyVariant Identifiers: chr1:g.155265443G>A (hg19) ; chr1:g.155295652G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.155295652G>A , CM000663.2:g.155295652G>A	GRCh38
NC_000001.10:g.155265443G>A , CM000663.1:g.155265443G>A	GRCh37
NC_000001.9:g.153532067G>A	NCBI36
NG_011677.1:g.10783C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342741.6:c.375+13C>T MANE Select	ENSP00000339933.4:n.375+13C>T
ENST00000434082.3:c.183+13C>T	ENSP00000398037.3:n.183+13C>T
ENST00000342741.4:c.375+13C>T	ENSP00000339933.4:n.375+13C>T
ENST00000392414.7:c.282+13C>T	ENSP00000376214.3:n.282+13C>T
ENST00000434082.2:c.280+13C>T	ENSP00000398037.2:n.280+13C>T
NM_000298.5:c.375+13C>T	NP_000289.1:n.375+13C>T
NM_181871.3:c.282+13C>T	NP_870986.1:n.282+13C>T
XM_005245266.3:c.534+13C>T	XP_005245323.1:n.534+13C>T
XM_006711386.2:c.183+13C>T	XP_006711449.1:n.183+13C>T
XM_011509639.1:c.534+13C>T	XP_011507941.1:n.534+13C>T
XM_011509640.1:c.183+13C>T	XP_011507942.1:n.183+13C>T
NM_000298.6:c.375+13C>T MANE Select	NP_000289.1:n.375+13C>T
XM_006711386.4:c.183+13C>T	XP_006711449.1:n.183+13C>T
XM_011509640.3:c.183+13C>T	XP_011507942.1:n.183+13C>T
XM_017001493.1:c.375+13C>T	XP_016856982.1:n.375+13C>T
NM_181871.4:c.282+13C>T	NP_870986.1:n.282+13C>T