Canonical Allele Identifier: CA1144172

Gene: PKLR

Linked Data

• dbSNP Id: rs745663677
• ExAC: 1:155264287 G / A
• gnomAD v2: 1-155264287-G-A
• gnomAD v4: 1-155294496-G-A
• MyVariant Identifiers: chr1:g.155264287G>A (hg19) ; chr1:g.155294496G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.155294496G>A , CM000663.2:g.155294496G>A	GRCh38
NC_000001.10:g.155264287G>A , CM000663.1:g.155264287G>A	GRCh37
NC_000001.9:g.153530911G>A	NCBI36
NG_011677.1:g.11939C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342741.6:c.951C>T MANE Select	ENSP00000339933.4:p.His317=
ENST00000342741.4:c.951C>T	ENSP00000339933.4:p.His317=
ENST00000392414.7:c.858C>T	ENSP00000376214.3:p.His286=
NM_000298.5:c.951C>T	NP_000289.1:p.His317=
NM_181871.3:c.858C>T	NP_870986.1:p.His286=
XM_005245266.3:c.1110C>T	XP_005245323.1:p.His370=
XM_006711386.2:c.759C>T	XP_006711449.1:p.His253=
XM_011509639.1:c.1110C>T	XP_011507941.1:p.His370=
XM_011509640.1:c.759C>T	XP_011507942.1:p.His253=
NM_000298.6:c.951C>T MANE Select	NP_000289.1:p.His317=
XM_006711386.4:c.759C>T	XP_006711449.1:p.His253=
XM_011509640.3:c.759C>T	XP_011507942.1:p.His253=
XM_017001493.1:c.951C>T	XP_016856982.1:p.His317=
NM_181871.4:c.858C>T	NP_870986.1:p.His286=