Canonical Allele Identifier: CA6716482

Gene: KERA

Linked Data

• dbSNP Id: rs774974907
• ExAC: 12:91449153 A / G
• gnomAD v2: 12-91449153-A-G
• gnomAD v3: 12-91055376-A-G
• gnomAD v4: 12-91055376-A-G
• MyVariant Identifiers: chr12:g.91449153A>G (hg19) ; chr12:g.91055376A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.91055376A>G , CM000674.2:g.91055376A>G	GRCh38
NC_000012.11:g.91449153A>G , CM000674.1:g.91449153A>G	GRCh37
NC_000012.10:g.89973284A>G	NCBI36
NG_021223.1:g.7979T>C , LRG_538:g.7979T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000266719.4:c.886+20T>C MANE Select	ENSP00000266719.3:n.886+20T>C
ENST00000266719.3:c.886+20T>C	ENSP00000266719.3:n.886+20T>C
NM_007035.3:c.886+20T>C , LRG_538t1:c.886+20T>C	NP_008966.1:n.886+20T>C
XM_011537781.1:c.886+20T>C	XP_011536083.1:n.886+20T>C
NM_007035.4:c.886+20T>C MANE Select	NP_008966.1:n.886+20T>C