Canonical Allele Identifier: CA241201559
Gene: KERA HGNC NCBI

Linked Data

dbSNP Id: rs376196047
gnomAD v4: 12-91055987-A-G
MyVariant Identifiers: chr12:g.91449764A>G (hg19) chr12:g.91055987A>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.91055987A>G , CM000674.2:g.91055987A>G GRCh38
NC_000012.11:g.91449764A>G , CM000674.1:g.91449764A>G GRCh37
NC_000012.10:g.89973895A>G NCBI36
NG_021223.1:g.7368T>C , LRG_538:g.7368T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000266719.4:c.295T>C MANE Select ENSP00000266719.3:p.Trp99Arg
ENST00000266719.3:c.295T>C ENSP00000266719.3:p.Trp99Arg
NM_007035.3:c.295T>C , LRG_538t1:c.295T>C NP_008966.1:p.Trp99Arg
XM_011537781.1:c.295T>C XP_011536083.1:p.Trp99Arg
NM_007035.4:c.295T>C MANE Select NP_008966.1:p.Trp99Arg
Search 100 bp 5'
Search 100 bp 3'