Canonical Allele Identifier: CA2575245770
Gene: KERA HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.91055351G>T , CM000674.2:g.91055351G>T GRCh38
NC_000012.11:g.91449128G>T , CM000674.1:g.91449128G>T GRCh37
NC_000012.10:g.89973259G>T NCBI36
NG_021223.1:g.8004C>A , LRG_538:g.8004C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000266719.4:c.886+45C>A MANE Select ENSP00000266719.3:n.886+45C>A
ENST00000266719.3:c.886+45C>A ENSP00000266719.3:n.886+45C>A
NM_007035.3:c.886+45C>A , LRG_538t1:c.886+45C>A NP_008966.1:n.886+45C>A
XM_011537781.1:c.886+45C>A XP_011536083.1:n.886+45C>A
NM_007035.4:c.886+45C>A MANE Select NP_008966.1:n.886+45C>A