Canonical Allele Identifier: CA386014475
Gene: KERA HGNC NCBI

Linked Data

dbSNP Id: rs1177047666
gnomAD v3: 12-91056010-A-T
gnomAD v4: 12-91056010-A-T
MyVariant Identifiers: chr12:g.91449787A>T (hg19) chr12:g.91056010A>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.91056010A>T , CM000674.2:g.91056010A>T GRCh38
NC_000012.11:g.91449787A>T , CM000674.1:g.91449787A>T GRCh37
NC_000012.10:g.89973918A>T NCBI36
NG_021223.1:g.7345T>A , LRG_538:g.7345T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000266719.4:c.272T>A MANE Select ENSP00000266719.3:p.Phe91Tyr
ENST00000266719.3:c.272T>A ENSP00000266719.3:p.Phe91Tyr
NM_007035.3:c.272T>A , LRG_538t1:c.272T>A NP_008966.1:p.Phe91Tyr
XM_011537781.1:c.272T>A XP_011536083.1:p.Phe91Tyr
NM_007035.4:c.272T>A MANE Select NP_008966.1:p.Phe91Tyr
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