Canonical Allele Identifier: CA1144073

Gene: PKLR

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.155293529T>C , CM000663.2:g.155293529T>C	GRCh38
NC_000001.10:g.155263320T>C , CM000663.1:g.155263320T>C	GRCh37
NC_000001.9:g.153529944T>C	NCBI36
NG_011677.1:g.12906A>G

Transcript Alleles

HGVS	Amino-acid Change
NM_000298.6:c.1178A>G MANE Select	NP_000289.1:p.Asn393Ser
ENST00000342741.6:c.1178A>G MANE Select	ENSP00000339933.4:p.Asn393Ser
NM_000298.5:c.1178A>G	NP_000289.1:p.Asn393Ser
NM_181871.3:c.1085A>G	NP_870986.1:p.Asn362Ser
NM_181871.4:c.1085A>G	NP_870986.1:p.Asn362Ser
ENST00000342741.4:c.1178A>G	ENSP00000339933.4:p.Asn393Ser
ENST00000392414.7:c.1085A>G	ENSP00000376214.3:p.Asn362Ser
XM_005245266.3:c.1337A>G	XP_005245323.1:p.Asn446Ser
XM_006711386.2:c.986A>G	XP_006711449.1:p.Asn329Ser
XM_006711386.4:c.986A>G	XP_006711449.1:p.Asn329Ser
XM_011509639.1:c.*46A>G	XP_011507941.1:n.*46A>G
XM_011509640.1:c.986A>G	XP_011507942.1:p.Asn329Ser
XM_011509640.3:c.986A>G	XP_011507942.1:p.Asn329Ser
XM_017001493.1:c.*46A>G	XP_016856982.1:n.*46A>G