Canonical Allele Identifier: CA241201288
Gene: KERA HGNC NCBI

Linked Data

dbSNP Id: rs963647138

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.91055524C>T , CM000674.2:g.91055524C>T GRCh38
NC_000012.11:g.91449301C>T , CM000674.1:g.91449301C>T GRCh37
NC_000012.10:g.89973432C>T NCBI36
NG_021223.1:g.7831G>A , LRG_538:g.7831G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000266719.4:c.758G>A MANE Select ENSP00000266719.3:p.Gly253Asp
ENST00000266719.3:c.758G>A ENSP00000266719.3:p.Gly253Asp
NM_007035.3:c.758G>A , LRG_538t1:c.758G>A NP_008966.1:p.Gly253Asp
XM_011537781.1:c.758G>A XP_011536083.1:p.Gly253Asp
NM_007035.4:c.758G>A MANE Select NP_008966.1:p.Gly253Asp