Canonical Allele Identifier: CA2054259631
Gene: KERA HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.91055475C= , CM000674.2:g.91055475C= GRCh38
NC_000012.11:g.91449252C= , CM000674.1:g.91449252C= GRCh37
NC_000012.10:g.89973383C= NCBI36
NG_021223.1:g.7880G= , LRG_538:g.7880G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000266719.4:c.807G= MANE Select ENSP00000266719.3:p.Leu269=
ENST00000266719.3:c.807G= ENSP00000266719.3:p.Leu269=
NM_007035.3:c.807G= , LRG_538t1:c.807G= NP_008966.1:p.Leu269=
XM_011537781.1:c.807G= XP_011536083.1:p.Leu269=
NM_007035.4:c.807G= MANE Select NP_008966.1:p.Leu269=