Canonical Allele Identifier: CA2054259696
Gene: KERA HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.91055629A= , CM000674.2:g.91055629A= GRCh38
NC_000012.11:g.91449406A= , CM000674.1:g.91449406A= GRCh37
NC_000012.10:g.89973537A= NCBI36
NG_021223.1:g.7726T= , LRG_538:g.7726T=

Transcript Alleles

HGVS Amino-acid Change
ENST00000266719.4:c.653T= MANE Select ENSP00000266719.3:p.Leu218=
ENST00000266719.3:c.653T= ENSP00000266719.3:p.Leu218=
NM_007035.3:c.653T= , LRG_538t1:c.653T= NP_008966.1:p.Leu218=
XM_011537781.1:c.653T= XP_011536083.1:p.Leu218=
NM_007035.4:c.653T= MANE Select NP_008966.1:p.Leu218=