Canonical Allele Identifier: CA6582960
Gene: KRT5 HGNC NCBI

Linked Data

dbSNP Id: rs371960977
ExAC: 12:52914063 A / G
gnomAD v2: 12-52914063-A-G
gnomAD v3: 12-52520279-A-G
gnomAD v4: 12-52520279-A-G
MyVariant Identifiers: chr12:g.52914063A>G (hg19) chr12:g.52520279A>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.52520279A>G , CM000674.2:g.52520279A>G GRCh38
NC_000012.11:g.52914063A>G , CM000674.1:g.52914063A>G GRCh37
NC_000012.10:g.51200330A>G NCBI36
NG_008297.1:g.5181T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000252242.9:c.18T>C MANE Select ENSP00000252242.4:p.Ser6=
ENST00000252242.8:c.18T>C ENSP00000252242.4:p.Ser6=
ENST00000546577.1:c.18T>C ENSP00000449651.1:p.Ser6=
ENST00000549420.1:c.18T>C ENSP00000447209.1:p.Ser6=
ENST00000551275.1:c.18T>C ENSP00000448041.1:p.Ser6=
ENST00000552629.5:n.116T>C
NM_000424.3:c.18T>C NP_000415.2:p.Ser6=
NM_000424.4:c.18T>C MANE Select NP_000415.2:p.Ser6=
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