Canonical Allele Identifier: CA6716539
Gene: KERA HGNC NCBI

Linked Data

dbSNP Id: rs777208206
ExAC: 12:91449463 A / G
gnomAD v2: 12-91449463-A-G
gnomAD v3: 12-91055686-A-G
gnomAD v4: 12-91055686-A-G
MyVariant Identifiers: chr12:g.91449463A>G (hg19) chr12:g.91055686A>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.91055686A>G , CM000674.2:g.91055686A>G GRCh38
NC_000012.11:g.91449463A>G , CM000674.1:g.91449463A>G GRCh37
NC_000012.10:g.89973594A>G NCBI36
NG_021223.1:g.7669T>C , LRG_538:g.7669T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000266719.4:c.596T>C MANE Select ENSP00000266719.3:p.Met199Thr
ENST00000266719.3:c.596T>C ENSP00000266719.3:p.Met199Thr
NM_007035.3:c.596T>C , LRG_538t1:c.596T>C NP_008966.1:p.Met199Thr
XM_011537781.1:c.596T>C XP_011536083.1:p.Met199Thr
NM_007035.4:c.596T>C MANE Select NP_008966.1:p.Met199Thr
Search 100 bp 5'
Search 100 bp 3'