Canonical Allele Identifier: CA6716600
Gene: KERA HGNC NCBI

Linked Data

dbSNP Id: rs748011083
ExAC: 12:91449774 G / C
gnomAD v2: 12-91449774-G-C
gnomAD v4: 12-91055997-G-C
MyVariant Identifiers: chr12:g.91449774G>C (hg19) chr12:g.91055997G>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.91055997G>C , CM000674.2:g.91055997G>C GRCh38
NC_000012.11:g.91449774G>C , CM000674.1:g.91449774G>C GRCh37
NC_000012.10:g.89973905G>C NCBI36
NG_021223.1:g.7358C>G , LRG_538:g.7358C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000266719.4:c.285C>G MANE Select ENSP00000266719.3:p.Thr95=
ENST00000266719.3:c.285C>G ENSP00000266719.3:p.Thr95=
NM_007035.3:c.285C>G , LRG_538t1:c.285C>G NP_008966.1:p.Thr95=
XM_011537781.1:c.285C>G XP_011536083.1:p.Thr95=
NM_007035.4:c.285C>G MANE Select NP_008966.1:p.Thr95=
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