Canonical Allele Identifier: CA386013129

Gene: KERA

Linked Data

• MyVariant Identifiers: chr12:g.91449171A>C (hg19) ; chr12:g.91055394A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.91055394A>C , CM000674.2:g.91055394A>C	GRCh38
NC_000012.11:g.91449171A>C , CM000674.1:g.91449171A>C	GRCh37
NC_000012.10:g.89973302A>C	NCBI36
NG_021223.1:g.7961T>G , LRG_538:g.7961T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000266719.4:c.886+2T>G MANE Select	ENSP00000266719.3:n.886+2T>G
ENST00000266719.3:c.886+2T>G	ENSP00000266719.3:n.886+2T>G
NM_007035.3:c.886+2T>G , LRG_538t1:c.886+2T>G	NP_008966.1:n.886+2T>G
XM_011537781.1:c.886+2T>G	XP_011536083.1:n.886+2T>G
NM_007035.4:c.886+2T>G MANE Select	NP_008966.1:n.886+2T>G