Canonical Allele Identifier: CA386013489

Gene: KERA

Linked Data

• COSMIC: COSM348789
• MyVariant Identifiers: chr12:g.91449341C>A (hg19) ; chr12:g.91055564C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.91055564C>A , CM000674.2:g.91055564C>A	GRCh38
NC_000012.11:g.91449341C>A , CM000674.1:g.91449341C>A	GRCh37
NC_000012.10:g.89973472C>A	NCBI36
NG_021223.1:g.7791G>T , LRG_538:g.7791G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000266719.4:c.718G>T MANE Select	ENSP00000266719.3:p.Ala240Ser
ENST00000266719.3:c.718G>T	ENSP00000266719.3:p.Ala240Ser
NM_007035.3:c.718G>T , LRG_538t1:c.718G>T	NP_008966.1:p.Ala240Ser
XM_011537781.1:c.718G>T	XP_011536083.1:p.Ala240Ser
NM_007035.4:c.718G>T MANE Select	NP_008966.1:p.Ala240Ser