Canonical Allele Identifier: CA386013946
Gene: KERA HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.91055770A>T , CM000674.2:g.91055770A>T GRCh38
NC_000012.11:g.91449547A>T , CM000674.1:g.91449547A>T GRCh37
NC_000012.10:g.89973678A>T NCBI36
NG_021223.1:g.7585T>A , LRG_538:g.7585T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000266719.4:c.512T>A MANE Select ENSP00000266719.3:p.Leu171His
ENST00000266719.3:c.512T>A ENSP00000266719.3:p.Leu171His
NM_007035.3:c.512T>A , LRG_538t1:c.512T>A NP_008966.1:p.Leu171His
XM_011537781.1:c.512T>A XP_011536083.1:p.Leu171His
NM_007035.4:c.512T>A MANE Select NP_008966.1:p.Leu171His