Canonical Allele Identifier: CA386013436
Gene: KERA HGNC NCBI

Linked Data

MyVariant Identifiers: chr12:g.91449316T>A (hg19) chr12:g.91055539T>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.91055539T>A , CM000674.2:g.91055539T>A GRCh38
NC_000012.11:g.91449316T>A , CM000674.1:g.91449316T>A GRCh37
NC_000012.10:g.89973447T>A NCBI36
NG_021223.1:g.7816A>T , LRG_538:g.7816A>T

Transcript Alleles

HGVS Amino-acid change
ENST00000266719.4:c.743A>T MANE Select ENSP00000266719.3:p.Lys248Ile
ENST00000266719.3:c.743A>T ENSP00000266719.3:p.Lys248Ile
NM_007035.3:c.743A>T , LRG_538t1:c.743A>T NP_008966.1:p.Lys248Ile
XM_011537781.1:c.743A>T XP_011536083.1:p.Lys248Ile
NM_007035.4:c.743A>T MANE Select NP_008966.1:p.Lys248Ile
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Search 100 bp 3'