Canonical Allele Identifier: CA386013761
Gene: KERA HGNC NCBI

Linked Data

MyVariant Identifiers: chr12:g.91449463A>C (hg19) chr12:g.91055686A>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.91055686A>C , CM000674.2:g.91055686A>C GRCh38
NC_000012.11:g.91449463A>C , CM000674.1:g.91449463A>C GRCh37
NC_000012.10:g.89973594A>C NCBI36
NG_021223.1:g.7669T>G , LRG_538:g.7669T>G

Transcript Alleles

HGVS Amino-acid change
ENST00000266719.4:c.596T>G MANE Select ENSP00000266719.3:p.Met199Arg
ENST00000266719.3:c.596T>G ENSP00000266719.3:p.Met199Arg
NM_007035.3:c.596T>G , LRG_538t1:c.596T>G NP_008966.1:p.Met199Arg
XM_011537781.1:c.596T>G XP_011536083.1:p.Met199Arg
NM_007035.4:c.596T>G MANE Select NP_008966.1:p.Met199Arg
Search 100 bp 5'
Search 100 bp 3'