Canonical Allele Identifier: CA6716518
Gene: KERA HGNC NCBI

Linked Data

dbSNP Id: rs569911279
ExAC: 12:91449318 G / T
gnomAD v2: 12-91449318-G-T
gnomAD v4: 12-91055541-G-T
MyVariant Identifiers: chr12:g.91449318G>T (hg19) chr12:g.91055541G>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.91055541G>T , CM000674.2:g.91055541G>T GRCh38
NC_000012.11:g.91449318G>T , CM000674.1:g.91449318G>T GRCh37
NC_000012.10:g.89973449G>T NCBI36
NG_021223.1:g.7814C>A , LRG_538:g.7814C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000266719.4:c.741C>A MANE Select ENSP00000266719.3:p.Asn247Lys
ENST00000266719.3:c.741C>A ENSP00000266719.3:p.Asn247Lys
NM_007035.3:c.741C>A , LRG_538t1:c.741C>A NP_008966.1:p.Asn247Lys
XM_011537781.1:c.741C>A XP_011536083.1:p.Asn247Lys
NM_007035.4:c.741C>A MANE Select NP_008966.1:p.Asn247Lys
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