Canonical Allele Identifier: CA10645600
Gene: KRT13 HGNC NCBI

Linked Data

ClinVar Variation Id: 323069
ClinVar RCV Id: RCV000332496
dbSNP Id: rs574184263
gnomAD v2: 17-39657280-G-C
gnomAD v3: 17-41501028-G-C
gnomAD v4: 17-41501028-G-C
MyVariant Identifiers: chr17:g.39657280G>C (hg19) chr17:g.41501028G>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.41501028G>C , CM000679.2:g.41501028G>C GRCh38
NC_000017.10:g.39657280G>C , CM000679.1:g.39657280G>C GRCh37
NC_000017.9:g.36910806G>C NCBI36
NG_008406.1:g.9586C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000246635.8:c.*228C>G MANE Select ENSP00000246635.3:n.*228C>G
ENST00000246635.7:c.*228C>G ENSP00000246635.3:n.*228C>G
ENST00000336861.7:c.*316C>G ENSP00000336604.3:n.*316C>G
ENST00000468313.5:n.1797C>G
ENST00000475217.1:n.445C>G
NM_002274.3:c.*316C>G NP_002265.2:n.*316C>G
NM_153490.2:c.*228C>G NP_705694.2:n.*228C>G
NM_153490.3:c.*228C>G MANE Select NP_705694.3:n.*228C>G
NM_002274.4:c.*316C>G NP_002265.3:n.*316C>G
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