Canonical Allele Identifier: CA386013635
Gene: KERA HGNC NCBI

Linked Data

dbSNP Id: rs1264120411

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.91055629A>G , CM000674.2:g.91055629A>G GRCh38
NC_000012.11:g.91449406A>G , CM000674.1:g.91449406A>G GRCh37
NC_000012.10:g.89973537A>G NCBI36
NG_021223.1:g.7726T>C , LRG_538:g.7726T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000266719.4:c.653T>C MANE Select ENSP00000266719.3:p.Leu218Ser
ENST00000266719.3:c.653T>C ENSP00000266719.3:p.Leu218Ser
NM_007035.3:c.653T>C , LRG_538t1:c.653T>C NP_008966.1:p.Leu218Ser
XM_011537781.1:c.653T>C XP_011536083.1:p.Leu218Ser
NM_007035.4:c.653T>C MANE Select NP_008966.1:p.Leu218Ser