Canonical Allele Identifier: CA386014478
Gene: KERA HGNC NCBI

Linked Data

dbSNP Id: rs1488458476
gnomAD v2: 12-91449790-G-A
gnomAD v4: 12-91056013-G-A
MyVariant Identifiers: chr12:g.91449790G>A (hg19) chr12:g.91056013G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.91056013G>A , CM000674.2:g.91056013G>A GRCh38
NC_000012.11:g.91449790G>A , CM000674.1:g.91449790G>A GRCh37
NC_000012.10:g.89973921G>A NCBI36
NG_021223.1:g.7342C>T , LRG_538:g.7342C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000266719.4:c.269C>T MANE Select ENSP00000266719.3:p.Pro90Leu
ENST00000266719.3:c.269C>T ENSP00000266719.3:p.Pro90Leu
NM_007035.3:c.269C>T , LRG_538t1:c.269C>T NP_008966.1:p.Pro90Leu
XM_011537781.1:c.269C>T XP_011536083.1:p.Pro90Leu
NM_007035.4:c.269C>T MANE Select NP_008966.1:p.Pro90Leu
Search 100 bp 5'
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