Canonical Allele Identifier: CA386013936
Gene: KERA HGNC NCBI

Linked Data

MyVariant Identifiers: chr12:g.91449542G>C (hg19) chr12:g.91055765G>C (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.91055765G>C , CM000674.2:g.91055765G>C GRCh38
NC_000012.11:g.91449542G>C , CM000674.1:g.91449542G>C GRCh37
NC_000012.10:g.89973673G>C NCBI36
NG_021223.1:g.7590C>G , LRG_538:g.7590C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000266719.4:c.517C>G MANE Select ENSP00000266719.3:p.Leu173Val
ENST00000266719.3:c.517C>G ENSP00000266719.3:p.Leu173Val
NM_007035.3:c.517C>G , LRG_538t1:c.517C>G NP_008966.1:p.Leu173Val
XM_011537781.1:c.517C>G XP_011536083.1:p.Leu173Val
NM_007035.4:c.517C>G MANE Select NP_008966.1:p.Leu173Val
Search 100 bp 5'
Search 100 bp 3'