Canonical Allele Identifier: CA386013323
Gene: KERA HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.91055482A>T , CM000674.2:g.91055482A>T GRCh38
NC_000012.11:g.91449259A>T , CM000674.1:g.91449259A>T GRCh37
NC_000012.10:g.89973390A>T NCBI36
NG_021223.1:g.7873T>A , LRG_538:g.7873T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000266719.4:c.800T>A MANE Select ENSP00000266719.3:p.Leu267His
ENST00000266719.3:c.800T>A ENSP00000266719.3:p.Leu267His
NM_007035.3:c.800T>A , LRG_538t1:c.800T>A NP_008966.1:p.Leu267His
XM_011537781.1:c.800T>A XP_011536083.1:p.Leu267His
NM_007035.4:c.800T>A MANE Select NP_008966.1:p.Leu267His