Canonical Allele Identifier: CA342755929

Gene: PKLR

Linked Data

• MyVariant Identifiers: chr1:g.155265356G>T (hg19) ; chr1:g.155295565G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.155295565G>T , CM000663.2:g.155295565G>T	GRCh38
NC_000001.10:g.155265356G>T , CM000663.1:g.155265356G>T	GRCh37
NC_000001.9:g.153531980G>T	NCBI36
NG_011677.1:g.10870C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000342741.6:c.379C>A MANE Select	ENSP00000339933.4:p.His127Asn
ENST00000434082.3:c.187C>A	ENSP00000398037.3:p.His63Asn
ENST00000342741.4:c.379C>A	ENSP00000339933.4:p.His127Asn
ENST00000392414.7:c.286C>A	ENSP00000376214.3:p.His96Asn
ENST00000434082.2:c.284C>A	ENSP00000398037.2:n.284C>A
NM_000298.5:c.379C>A	NP_000289.1:p.His127Asn
NM_181871.3:c.286C>A	NP_870986.1:p.His96Asn
XM_005245266.3:c.538C>A	XP_005245323.1:p.His180Asn
XM_006711386.2:c.187C>A	XP_006711449.1:p.His63Asn
XM_011509639.1:c.538C>A	XP_011507941.1:p.His180Asn
XM_011509640.1:c.187C>A	XP_011507942.1:p.His63Asn
NM_000298.6:c.379C>A MANE Select	NP_000289.1:p.His127Asn
XM_006711386.4:c.187C>A	XP_006711449.1:p.His63Asn
XM_011509640.3:c.187C>A	XP_011507942.1:p.His63Asn
XM_017001493.1:c.379C>A	XP_016856982.1:p.His127Asn
NM_181871.4:c.286C>A	NP_870986.1:p.His96Asn