Canonical Allele Identifier: CA386014222
Gene: KERA HGNC NCBI

Linked Data

dbSNP Id: rs1336855518
gnomAD v2: 12-91449672-T-G
gnomAD v4: 12-91055895-T-G
MyVariant Identifiers: chr12:g.91449672T>G (hg19) chr12:g.91055895T>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.91055895T>G , CM000674.2:g.91055895T>G GRCh38
NC_000012.11:g.91449672T>G , CM000674.1:g.91449672T>G GRCh37
NC_000012.10:g.89973803T>G NCBI36
NG_021223.1:g.7460A>C , LRG_538:g.7460A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000266719.4:c.387A>C MANE Select ENSP00000266719.3:p.Glu129Asp
ENST00000266719.3:c.387A>C ENSP00000266719.3:p.Glu129Asp
NM_007035.3:c.387A>C , LRG_538t1:c.387A>C NP_008966.1:p.Glu129Asp
XM_011537781.1:c.387A>C XP_011536083.1:p.Glu129Asp
NM_007035.4:c.387A>C MANE Select NP_008966.1:p.Glu129Asp
Search 100 bp 5'
Search 100 bp 3'