Canonical Allele Identifier: CA481306459
Gene: KERA HGNC NCBI

Linked Data

COSMIC: COSM5808807
MyVariant Identifiers: chr12:g.91449258A>G (hg19)
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.91055481A>G , CM000674.2:g.91055481A>G GRCh38
NC_000012.11:g.91449258A>G , CM000674.1:g.91449258A>G GRCh37
NC_000012.10:g.89973389A>G NCBI36
NG_021223.1:g.7874T>C , LRG_538:g.7874T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000266719.4:c.801T>C MANE Select ENSP00000266719.3:p.Leu267=
ENST00000266719.3:c.801T>C ENSP00000266719.3:p.Leu267=
NM_007035.3:c.801T>C , LRG_538t1:c.801T>C NP_008966.1:p.Leu267=
XM_011537781.1:c.801T>C XP_011536083.1:p.Leu267=
NM_007035.4:c.801T>C MANE Select NP_008966.1:p.Leu267=
Search 100 bp 5'
Search 100 bp 3'