Canonical Allele Identifier: CA6582975
Gene: KRT5 HGNC NCBI

Linked Data

dbSNP Id: rs778778095
ExAC: 12:52914123 G / T
gnomAD v2: 12-52914123-G-T
gnomAD v4: 12-52520339-G-T
MyVariant Identifiers: chr12:g.52914123G>T (hg19) chr12:g.52520339G>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.52520339G>T , CM000674.2:g.52520339G>T GRCh38
NC_000012.11:g.52914123G>T , CM000674.1:g.52914123G>T GRCh37
NC_000012.10:g.51200390G>T NCBI36
NG_008297.1:g.5121C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000252242.9:c.-43C>A MANE Select ENSP00000252242.4:n.-43C>A
ENST00000252242.8:c.-43C>A ENSP00000252242.4:n.-43C>A
ENST00000546577.1:c.-12-31C>A ENSP00000449651.1:n.-12-31C>A
ENST00000549420.1:c.-43C>A ENSP00000447209.1:n.-43C>A
ENST00000551275.1:c.-43C>A ENSP00000448041.1:n.-43C>A
ENST00000552629.5:n.56C>A
NM_000424.3:c.-43C>A NP_000415.2:n.-43C>A
NM_000424.4:c.-43C>A MANE Select NP_000415.2:n.-43C>A
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