Canonical Allele Identifier: CA386013883
Gene: KERA HGNC NCBI

Linked Data

MyVariant Identifiers: chr12:g.91449518T>A (hg19) chr12:g.91055741T>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.91055741T>A , CM000674.2:g.91055741T>A GRCh38
NC_000012.11:g.91449518T>A , CM000674.1:g.91449518T>A GRCh37
NC_000012.10:g.89973649T>A NCBI36
NG_021223.1:g.7614A>T , LRG_538:g.7614A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000266719.4:c.541A>T MANE Select ENSP00000266719.3:p.Asn181Tyr
ENST00000266719.3:c.541A>T ENSP00000266719.3:p.Asn181Tyr
NM_007035.3:c.541A>T , LRG_538t1:c.541A>T NP_008966.1:p.Asn181Tyr
XM_011537781.1:c.541A>T XP_011536083.1:p.Asn181Tyr
NM_007035.4:c.541A>T MANE Select NP_008966.1:p.Asn181Tyr
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