Canonical Allele Identifier: CA342759168
Community Standard Title: NM_000298.6(PKLR):c.68T>G (p.Leu23Ter)
Gene: PKLR HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.155301328A>C , CM000663.2:g.155301328A>C GRCh38
NC_000001.10:g.155271119A>C , CM000663.1:g.155271119A>C GRCh37
NC_000001.9:g.153537743A>C NCBI36
NG_011677.1:g.5107T>G

Transcript Alleles

HGVS Amino-acid Change
NM_000298.6:c.68T>G MANE Select NP_000289.1:p.Leu23Ter
ENST00000342741.6:c.68T>G MANE Select ENSP00000339933.4:p.Leu23Ter
NM_000298.5:c.68T>G NP_000289.1:p.Leu23Ter
ENST00000342741.4:c.68T>G ENSP00000339933.4:p.Leu23Ter
XM_005245266.3:c.227T>G XP_005245323.1:p.Leu76Ter
XM_011509639.1:c.227T>G XP_011507941.1:p.Leu76Ter
XM_017001493.1:c.68T>G XP_016856982.1:p.Leu23Ter
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