Canonical Allele Identifier: CA6716586
Gene: KERA HGNC NCBI

Linked Data

dbSNP Id: rs762550846
ExAC: 12:91449705 G / C
gnomAD v2: 12-91449705-G-C
gnomAD v4: 12-91055928-G-C
MyVariant Identifiers: chr12:g.91449705G>C (hg19) chr12:g.91055928G>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.91055928G>C , CM000674.2:g.91055928G>C GRCh38
NC_000012.11:g.91449705G>C , CM000674.1:g.91449705G>C GRCh37
NC_000012.10:g.89973836G>C NCBI36
NG_021223.1:g.7427C>G , LRG_538:g.7427C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000266719.4:c.354C>G MANE Select ENSP00000266719.3:p.Ser118Arg
ENST00000266719.3:c.354C>G ENSP00000266719.3:p.Ser118Arg
NM_007035.3:c.354C>G , LRG_538t1:c.354C>G NP_008966.1:p.Ser118Arg
XM_011537781.1:c.354C>G XP_011536083.1:p.Ser118Arg
NM_007035.4:c.354C>G MANE Select NP_008966.1:p.Ser118Arg
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