Canonical Allele Identifier: CA480070470
Gene: KRT5 HGNC NCBI

Linked Data

dbSNP Id: rs1565594079
gnomAD v4: 12-52519970-A-G
MyVariant Identifiers: chr12:g.52913754A>G (hg19)
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.52519970A>G , CM000674.2:g.52519970A>G GRCh38
NC_000012.11:g.52913754A>G , CM000674.1:g.52913754A>G GRCh37
NC_000012.10:g.51200021A>G NCBI36
NG_008297.1:g.5490T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000252242.9:c.327T>C MANE Select ENSP00000252242.4:p.Gly109=
ENST00000252242.8:c.327T>C ENSP00000252242.4:p.Gly109=
ENST00000546577.1:c.327T>C ENSP00000449651.1:p.Gly109=
ENST00000549420.1:c.44-47T>C ENSP00000447209.1:n.44-47T>C
ENST00000551275.1:c.222T>C ENSP00000448041.1:p.Gly74=
ENST00000552629.5:n.425T>C
NM_000424.3:c.327T>C NP_000415.2:p.Gly109=
NM_000424.4:c.327T>C MANE Select NP_000415.2:p.Gly109=
Search 100 bp 5'
Search 100 bp 3'