Canonical Allele Identifier: CA386013355
Gene: KERA HGNC NCBI

Linked Data

dbSNP Id: rs1279935620
COSMIC: COSM5481101
MyVariant Identifiers: chr12:g.91449277A>G (hg19) chr12:g.91055500A>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.91055500A>G , CM000674.2:g.91055500A>G GRCh38
NC_000012.11:g.91449277A>G , CM000674.1:g.91449277A>G GRCh37
NC_000012.10:g.89973408A>G NCBI36
NG_021223.1:g.7855T>C , LRG_538:g.7855T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000266719.4:c.782T>C MANE Select ENSP00000266719.3:p.Val261Ala
ENST00000266719.3:c.782T>C ENSP00000266719.3:p.Val261Ala
NM_007035.3:c.782T>C , LRG_538t1:c.782T>C NP_008966.1:p.Val261Ala
XM_011537781.1:c.782T>C XP_011536083.1:p.Val261Ala
NM_007035.4:c.782T>C MANE Select NP_008966.1:p.Val261Ala
Search 100 bp 5'
Search 100 bp 3'