Canonical Allele Identifier: CA2054259595
Gene: KERA HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.91055383G= , CM000674.2:g.91055383G= GRCh38
NC_000012.11:g.91449160G= , CM000674.1:g.91449160G= GRCh37
NC_000012.10:g.89973291G= NCBI36
NG_021223.1:g.7972C= , LRG_538:g.7972C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000266719.4:c.886+13C= MANE Select ENSP00000266719.3:n.886+13C=
ENST00000266719.3:c.886+13C= ENSP00000266719.3:n.886+13C=
NM_007035.3:c.886+13C= , LRG_538t1:c.886+13C= NP_008966.1:n.886+13C=
XM_011537781.1:c.886+13C= XP_011536083.1:n.886+13C=
NM_007035.4:c.886+13C= MANE Select NP_008966.1:n.886+13C=