Canonical Allele Identifier: CA6716562
Gene: KERA HGNC NCBI

Linked Data

dbSNP Id: rs760491672
ExAC: 12:91449578 T / A
gnomAD v2: 12-91449578-T-A
gnomAD v3: 12-91055801-T-A
gnomAD v4: 12-91055801-T-A
MyVariant Identifiers: chr12:g.91449578T>A (hg19) chr12:g.91055801T>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.91055801T>A , CM000674.2:g.91055801T>A GRCh38
NC_000012.11:g.91449578T>A , CM000674.1:g.91449578T>A GRCh37
NC_000012.10:g.89973709T>A NCBI36
NG_021223.1:g.7554A>T , LRG_538:g.7554A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000266719.4:c.481A>T MANE Select ENSP00000266719.3:p.Thr161Ser
ENST00000266719.3:c.481A>T ENSP00000266719.3:p.Thr161Ser
NM_007035.3:c.481A>T , LRG_538t1:c.481A>T NP_008966.1:p.Thr161Ser
XM_011537781.1:c.481A>T XP_011536083.1:p.Thr161Ser
NM_007035.4:c.481A>T MANE Select NP_008966.1:p.Thr161Ser
Search 100 bp 5'
Search 100 bp 3'