Canonical Allele Identifier: CA386013660
Gene: KERA HGNC NCBI

Linked Data

gnomAD v4: 12-91055639-T-C
MyVariant Identifiers: chr12:g.91449416T>C (hg19) chr12:g.91055639T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.91055639T>C , CM000674.2:g.91055639T>C GRCh38
NC_000012.11:g.91449416T>C , CM000674.1:g.91449416T>C GRCh37
NC_000012.10:g.89973547T>C NCBI36
NG_021223.1:g.7716A>G , LRG_538:g.7716A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000266719.4:c.643A>G MANE Select ENSP00000266719.3:p.Thr215Ala
ENST00000266719.3:c.643A>G ENSP00000266719.3:p.Thr215Ala
NM_007035.3:c.643A>G , LRG_538t1:c.643A>G NP_008966.1:p.Thr215Ala
XM_011537781.1:c.643A>G XP_011536083.1:p.Thr215Ala
NM_007035.4:c.643A>G MANE Select NP_008966.1:p.Thr215Ala
Search 100 bp 5'
Search 100 bp 3'