Canonical Allele Identifier: CA241201553
Gene: KERA HGNC NCBI

Linked Data

dbSNP Id: rs954905600
gnomAD v2: 12-91449756-A-C
gnomAD v3: 12-91055979-A-C
gnomAD v4: 12-91055979-A-C
MyVariant Identifiers: chr12:g.91449756A>C (hg19) chr12:g.91055979A>C (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.91055979A>C , CM000674.2:g.91055979A>C GRCh38
NC_000012.11:g.91449756A>C , CM000674.1:g.91449756A>C GRCh37
NC_000012.10:g.89973887A>C NCBI36
NG_021223.1:g.7376T>G , LRG_538:g.7376T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000266719.4:c.303T>G MANE Select ENSP00000266719.3:p.Asn101Lys
ENST00000266719.3:c.303T>G ENSP00000266719.3:p.Asn101Lys
NM_007035.3:c.303T>G , LRG_538t1:c.303T>G NP_008966.1:p.Asn101Lys
XM_011537781.1:c.303T>G XP_011536083.1:p.Asn101Lys
NM_007035.4:c.303T>G MANE Select NP_008966.1:p.Asn101Lys
Search 100 bp 5'
Search 100 bp 3'