Canonical Allele Identifier: CA386013473
Gene: KERA HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.91055556C>A , CM000674.2:g.91055556C>A GRCh38
NC_000012.11:g.91449333C>A , CM000674.1:g.91449333C>A GRCh37
NC_000012.10:g.89973464C>A NCBI36
NG_021223.1:g.7799G>T , LRG_538:g.7799G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000266719.4:c.726G>T MANE Select ENSP00000266719.3:p.Leu242Phe
ENST00000266719.3:c.726G>T ENSP00000266719.3:p.Leu242Phe
NM_007035.3:c.726G>T , LRG_538t1:c.726G>T NP_008966.1:p.Leu242Phe
XM_011537781.1:c.726G>T XP_011536083.1:p.Leu242Phe
NM_007035.4:c.726G>T MANE Select NP_008966.1:p.Leu242Phe