Canonical Allele Identifier: CA2573051383
Community Standard Title: NC_000001.11:g.155301478C>G
Gene: PKLR HGNC NCBI
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.155301478C>G , CM000663.2:g.155301478C>G GRCh38
NC_000001.10:g.155271269C>G , CM000663.1:g.155271269C>G GRCh37
NC_000001.9:g.153537893C>G NCBI36
NG_011677.1:g.4957G>C

Transcript Alleles

HGVS Amino-acid Change
XM_005245266.3:c.139-62G>C XP_005245323.1:n.139-62G>C
XM_011509639.1:c.139-62G>C XP_011507941.1:n.139-62G>C
Search 100 bp 5'
Search 100 bp 3'