Canonical Allele Identifier: CA241201233
Gene: KERA HGNC NCBI

Linked Data

dbSNP Id: rs886820698
gnomAD v2: 12-91449252-C-T
gnomAD v3: 12-91055475-C-T
gnomAD v4: 12-91055475-C-T
MyVariant Identifiers: chr12:g.91449252C>T (hg19) chr12:g.91055475C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.91055475C>T , CM000674.2:g.91055475C>T GRCh38
NC_000012.11:g.91449252C>T , CM000674.1:g.91449252C>T GRCh37
NC_000012.10:g.89973383C>T NCBI36
NG_021223.1:g.7880G>A , LRG_538:g.7880G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000266719.4:c.807G>A MANE Select ENSP00000266719.3:p.Leu269=
ENST00000266719.3:c.807G>A ENSP00000266719.3:p.Leu269=
NM_007035.3:c.807G>A , LRG_538t1:c.807G>A NP_008966.1:p.Leu269=
XM_011537781.1:c.807G>A XP_011536083.1:p.Leu269=
NM_007035.4:c.807G>A MANE Select NP_008966.1:p.Leu269=
Search 100 bp 5'
Search 100 bp 3'