Canonical Allele Identifier: CA605071431
Gene: KRT5 HGNC NCBI

Linked Data

dbSNP Id: rs1392181811
gnomAD v2: 12-52914124-G-A
gnomAD v3: 12-52520340-G-A
gnomAD v4: 12-52520340-G-A
MyVariant Identifiers: chr12:g.52914124G>A (hg19) chr12:g.52520340G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.52520340G>A , CM000674.2:g.52520340G>A GRCh38
NC_000012.11:g.52914124G>A , CM000674.1:g.52914124G>A GRCh37
NC_000012.10:g.51200391G>A NCBI36
NG_008297.1:g.5120C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000252242.9:c.-44C>T MANE Select ENSP00000252242.4:n.-44C>T
ENST00000252242.8:c.-44C>T ENSP00000252242.4:n.-44C>T
ENST00000546577.1:c.-12-32C>T ENSP00000449651.1:n.-12-32C>T
ENST00000549420.1:c.-44C>T ENSP00000447209.1:n.-44C>T
ENST00000551275.1:c.-44C>T ENSP00000448041.1:n.-44C>T
ENST00000552629.5:n.55C>T
NM_000424.3:c.-44C>T NP_000415.2:n.-44C>T
NM_000424.4:c.-44C>T MANE Select NP_000415.2:n.-44C>T
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