Canonical Allele Identifier: CA386014039
Gene: KERA HGNC NCBI

Linked Data

MyVariant Identifiers: chr12:g.91449590T>G (hg19) chr12:g.91055813T>G (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.91055813T>G , CM000674.2:g.91055813T>G GRCh38
NC_000012.11:g.91449590T>G , CM000674.1:g.91449590T>G GRCh37
NC_000012.10:g.89973721T>G NCBI36
NG_021223.1:g.7542A>C , LRG_538:g.7542A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000266719.4:c.469A>C MANE Select ENSP00000266719.3:p.Ile157Leu
ENST00000266719.3:c.469A>C ENSP00000266719.3:p.Ile157Leu
NM_007035.3:c.469A>C , LRG_538t1:c.469A>C NP_008966.1:p.Ile157Leu
XM_011537781.1:c.469A>C XP_011536083.1:p.Ile157Leu
NM_007035.4:c.469A>C MANE Select NP_008966.1:p.Ile157Leu
Search 100 bp 5'
Search 100 bp 3'