Canonical Allele Identifier: CA386014300
Gene: KERA HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.91055933G>C , CM000674.2:g.91055933G>C GRCh38
NC_000012.11:g.91449710G>C , CM000674.1:g.91449710G>C GRCh37
NC_000012.10:g.89973841G>C NCBI36
NG_021223.1:g.7422C>G , LRG_538:g.7422C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000266719.4:c.349C>G MANE Select ENSP00000266719.3:p.Leu117Val
ENST00000266719.3:c.349C>G ENSP00000266719.3:p.Leu117Val
NM_007035.3:c.349C>G , LRG_538t1:c.349C>G NP_008966.1:p.Leu117Val
XM_011537781.1:c.349C>G XP_011536083.1:p.Leu117Val
NM_007035.4:c.349C>G MANE Select NP_008966.1:p.Leu117Val