Canonical Allele Identifier: CA6716479

Gene: KERA

Linked Data

• dbSNP Id: rs772607358
• ExAC: 12:91449134 G / T
• gnomAD v2: 12-91449134-G-T
• gnomAD v4: 12-91055357-G-T
• MyVariant Identifiers: chr12:g.91449134G>T (hg19) ; chr12:g.91055357G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.91055357G>T , CM000674.2:g.91055357G>T	GRCh38
NC_000012.11:g.91449134G>T , CM000674.1:g.91449134G>T	GRCh37
NC_000012.10:g.89973265G>T	NCBI36
NG_021223.1:g.7998C>A , LRG_538:g.7998C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000266719.4:c.886+39C>A MANE Select	ENSP00000266719.3:n.886+39C>A
ENST00000266719.3:c.886+39C>A	ENSP00000266719.3:n.886+39C>A
NM_007035.3:c.886+39C>A , LRG_538t1:c.886+39C>A	NP_008966.1:n.886+39C>A
XM_011537781.1:c.886+39C>A	XP_011536083.1:n.886+39C>A
NM_007035.4:c.886+39C>A MANE Select	NP_008966.1:n.886+39C>A