Canonical Allele Identifier: CA481306375
Gene: KERA HGNC NCBI

Linked Data

MyVariant Identifiers: chr12:g.91449210A>G (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.91055433A>G , CM000674.2:g.91055433A>G GRCh38
NC_000012.11:g.91449210A>G , CM000674.1:g.91449210A>G GRCh37
NC_000012.10:g.89973341A>G NCBI36
NG_021223.1:g.7922T>C , LRG_538:g.7922T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000266719.4:c.849T>C MANE Select ENSP00000266719.3:p.His283=
ENST00000266719.3:c.849T>C ENSP00000266719.3:p.His283=
NM_007035.3:c.849T>C , LRG_538t1:c.849T>C NP_008966.1:p.His283=
XM_011537781.1:c.849T>C XP_011536083.1:p.His283=
NM_007035.4:c.849T>C MANE Select NP_008966.1:p.His283=