Canonical Allele Identifier: CA386013592

Gene: KERA

Linked Data

• COSMIC: COSM6054637
• MyVariant Identifiers: chr12:g.91449388G>C (hg19) ; chr12:g.91055611G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.91055611G>C , CM000674.2:g.91055611G>C	GRCh38
NC_000012.11:g.91449388G>C , CM000674.1:g.91449388G>C	GRCh37
NC_000012.10:g.89973519G>C	NCBI36
NG_021223.1:g.7744C>G , LRG_538:g.7744C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000266719.4:c.671C>G MANE Select	ENSP00000266719.3:p.Ser224Cys
ENST00000266719.3:c.671C>G	ENSP00000266719.3:p.Ser224Cys
NM_007035.3:c.671C>G , LRG_538t1:c.671C>G	NP_008966.1:p.Ser224Cys
XM_011537781.1:c.671C>G	XP_011536083.1:p.Ser224Cys
NM_007035.4:c.671C>G MANE Select	NP_008966.1:p.Ser224Cys