Canonical Allele Identifier: CA481306435

Gene: KERA

Linked Data

• gnomAD v4: 12-91055469-G-A
• MyVariant Identifiers: chr12:g.91449246G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.91055469G>A , CM000674.2:g.91055469G>A	GRCh38
NC_000012.11:g.91449246G>A , CM000674.1:g.91449246G>A	GRCh37
NC_000012.10:g.89973377G>A	NCBI36
NG_021223.1:g.7886C>T , LRG_538:g.7886C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000266719.4:c.813C>T MANE Select	ENSP00000266719.3:p.His271=
ENST00000266719.3:c.813C>T	ENSP00000266719.3:p.His271=
NM_007035.3:c.813C>T , LRG_538t1:c.813C>T	NP_008966.1:p.His271=
XM_011537781.1:c.813C>T	XP_011536083.1:p.His271=
NM_007035.4:c.813C>T MANE Select	NP_008966.1:p.His271=