Canonical Allele Identifier: CA6716505
Gene: KERA HGNC NCBI

Linked Data

dbSNP Id: rs764245015
COSMIC: COSM944360

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.91055473G>A , CM000674.2:g.91055473G>A GRCh38
NC_000012.11:g.91449250G>A , CM000674.1:g.91449250G>A GRCh37
NC_000012.10:g.89973381G>A NCBI36
NG_021223.1:g.7882C>T , LRG_538:g.7882C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000266719.4:c.809C>T MANE Select ENSP00000266719.3:p.Ser270Leu
ENST00000266719.3:c.809C>T ENSP00000266719.3:p.Ser270Leu
NM_007035.3:c.809C>T , LRG_538t1:c.809C>T NP_008966.1:p.Ser270Leu
XM_011537781.1:c.809C>T XP_011536083.1:p.Ser270Leu
NM_007035.4:c.809C>T MANE Select NP_008966.1:p.Ser270Leu