Canonical Allele Identifier: CA6716596
Gene: KERA HGNC NCBI

Linked Data

dbSNP Id: rs746142009
ExAC: 12:91449753 T / C
gnomAD v2: 12-91449753-T-C
MyVariant Identifiers: chr12:g.91449753T>C (hg19) chr12:g.91055976T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.91055976T>C , CM000674.2:g.91055976T>C GRCh38
NC_000012.11:g.91449753T>C , CM000674.1:g.91449753T>C GRCh37
NC_000012.10:g.89973884T>C NCBI36
NG_021223.1:g.7379A>G , LRG_538:g.7379A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000266719.4:c.306A>G MANE Select ENSP00000266719.3:p.Leu102=
ENST00000266719.3:c.306A>G ENSP00000266719.3:p.Leu102=
NM_007035.3:c.306A>G , LRG_538t1:c.306A>G NP_008966.1:p.Leu102=
XM_011537781.1:c.306A>G XP_011536083.1:p.Leu102=
NM_007035.4:c.306A>G MANE Select NP_008966.1:p.Leu102=
Search 100 bp 5'
Search 100 bp 3'