Canonical Allele Identifier: CA2054259633
Gene: KERA HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.91055483G= , CM000674.2:g.91055483G= GRCh38
NC_000012.11:g.91449260G= , CM000674.1:g.91449260G= GRCh37
NC_000012.10:g.89973391G= NCBI36
NG_021223.1:g.7872C= , LRG_538:g.7872C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000266719.4:c.799C= MANE Select ENSP00000266719.3:p.Leu267=
ENST00000266719.3:c.799C= ENSP00000266719.3:p.Leu267=
NM_007035.3:c.799C= , LRG_538t1:c.799C= NP_008966.1:p.Leu267=
XM_011537781.1:c.799C= XP_011536083.1:p.Leu267=
NM_007035.4:c.799C= MANE Select NP_008966.1:p.Leu267=