Canonical Allele Identifier: CA481306886

Gene: KERA

Linked Data

• dbSNP Id: rs1451070433
• gnomAD v2: 12-91449738-T-G
• gnomAD v3: 12-91055961-T-G
• gnomAD v4: 12-91055961-T-G
• MyVariant Identifiers: chr12:g.91449738T>G (hg19) ; chr12:g.91055961T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.91055961T>G , CM000674.2:g.91055961T>G	GRCh38
NC_000012.11:g.91449738T>G , CM000674.1:g.91449738T>G	GRCh37
NC_000012.10:g.89973869T>G	NCBI36
NG_021223.1:g.7394A>C , LRG_538:g.7394A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000266719.4:c.321A>C MANE Select	ENSP00000266719.3:p.Ile107=
ENST00000266719.3:c.321A>C	ENSP00000266719.3:p.Ile107=
NM_007035.3:c.321A>C , LRG_538t1:c.321A>C	NP_008966.1:p.Ile107=
XM_011537781.1:c.321A>C	XP_011536083.1:p.Ile107=
NM_007035.4:c.321A>C MANE Select	NP_008966.1:p.Ile107=