Canonical Allele Identifier: CA386014459
Gene: KERA HGNC NCBI

Linked Data

MyVariant Identifiers: chr12:g.91449781T>G (hg19) chr12:g.91056004T>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.91056004T>G , CM000674.2:g.91056004T>G GRCh38
NC_000012.11:g.91449781T>G , CM000674.1:g.91449781T>G GRCh37
NC_000012.10:g.89973912T>G NCBI36
NG_021223.1:g.7351A>C , LRG_538:g.7351A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000266719.4:c.278A>C MANE Select ENSP00000266719.3:p.Asn93Thr
ENST00000266719.3:c.278A>C ENSP00000266719.3:p.Asn93Thr
NM_007035.3:c.278A>C , LRG_538t1:c.278A>C NP_008966.1:p.Asn93Thr
XM_011537781.1:c.278A>C XP_011536083.1:p.Asn93Thr
NM_007035.4:c.278A>C MANE Select NP_008966.1:p.Asn93Thr
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