Canonical Allele Identifier: CA8560795
Gene: KRT13 HGNC NCBI

Linked Data

ClinVar Variation Id: 323101
ClinVar RCV Id: RCV000367695 RCV001653575 RCV003972377
dbSNP Id: rs760134
ExAC: 17:39661366 G / C
gnomAD v2: 17-39661366-G-C
gnomAD v3: 17-41505114-G-C
gnomAD v4: 17-41505114-G-C
MyVariant Identifiers: chr17:g.39661366G>C (hg19) chr17:g.41505114G>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.41505114G>C , CM000679.2:g.41505114G>C GRCh38
NC_000017.10:g.39661366G>C , CM000679.1:g.39661366G>C GRCh37
NC_000017.9:g.36914892G>C NCBI36
NG_008406.1:g.5500C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000246635.8:c.437C>G MANE Select ENSP00000246635.3:p.Ala146Gly
ENST00000246635.7:c.437C>G ENSP00000246635.3:p.Ala146Gly
ENST00000336861.7:c.437C>G ENSP00000336604.3:p.Ala146Gly
ENST00000464634.2:c.*34C>G ENSP00000466525.1:n.*34C>G
ENST00000468313.5:n.273C>G
ENST00000587435.1:c.399+38C>G ENSP00000467833.1:n.399+38C>G
ENST00000587544.5:c.437C>G ENSP00000468221.1:p.Ala146Gly
ENST00000590425.1:c.116C>G ENSP00000466465.1:p.Ala39Gly
NM_002274.3:c.437C>G NP_002265.2:p.Ala146Gly
NM_153490.2:c.437C>G NP_705694.2:p.Ala146Gly
NM_153490.3:c.437C>G MANE Select NP_705694.3:p.Ala146Gly
NM_002274.4:c.437C>G NP_002265.3:p.Ala146Gly
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