Canonical Allele Identifier: CA237229721
Gene: KRT5 HGNC NCBI

Linked Data

dbSNP Id: rs552552191
gnomAD v3: 12-52520376-C-T
gnomAD v4: 12-52520376-C-T
MyVariant Identifiers: chr12:g.52914160C>T (hg19) chr12:g.52520376C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.52520376C>T , CM000674.2:g.52520376C>T GRCh38
NC_000012.11:g.52914160C>T , CM000674.1:g.52914160C>T GRCh37
NC_000012.10:g.51200427C>T NCBI36
NG_008297.1:g.5084G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000252242.9:c.-80G>A MANE Select ENSP00000252242.4:n.-80G>A
ENST00000252242.8:c.-80G>A ENSP00000252242.4:n.-80G>A
ENST00000546577.1:c.-13+21G>A ENSP00000449651.1:n.-13+21G>A
ENST00000551275.1:c.-80G>A ENSP00000448041.1:n.-80G>A
ENST00000552629.5:n.19G>A
NM_000424.3:c.-80G>A NP_000415.2:n.-80G>A
NM_000424.4:c.-80G>A MANE Select NP_000415.2:n.-80G>A
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