Canonical Allele Identifier: CA386014421

Gene: KERA

Linked Data

• dbSNP Id: rs2120962857
• MyVariant Identifiers: chr12:g.91449762C>A (hg19) ; chr12:g.91055985C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.91055985C>A , CM000674.2:g.91055985C>A	GRCh38
NC_000012.11:g.91449762C>A , CM000674.1:g.91449762C>A	GRCh37
NC_000012.10:g.89973893C>A	NCBI36
NG_021223.1:g.7370G>T , LRG_538:g.7370G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000266719.4:c.297G>T MANE Select	ENSP00000266719.3:p.Trp99Cys
ENST00000266719.3:c.297G>T	ENSP00000266719.3:p.Trp99Cys
NM_007035.3:c.297G>T , LRG_538t1:c.297G>T	NP_008966.1:p.Trp99Cys
XM_011537781.1:c.297G>T	XP_011536083.1:p.Trp99Cys
NM_007035.4:c.297G>T MANE Select	NP_008966.1:p.Trp99Cys