Canonical Allele Identifier: CA237234746
Gene: KRT6A HGNC NCBI

Linked Data

dbSNP Id: rs893108317
gnomAD v2: 12-52886389-T-C
gnomAD v3: 12-52492605-T-C
gnomAD v4: 12-52492605-T-C
MyVariant Identifiers: chr12:g.52886389T>C (hg19) chr12:g.52492605T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.52492605T>C , CM000674.2:g.52492605T>C GRCh38
NC_000012.11:g.52886389T>C , CM000674.1:g.52886389T>C GRCh37
NC_000012.10:g.51172656T>C NCBI36
NG_008298.1:g.5793A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000330722.7:c.540+44A>G MANE Select ENSP00000369317.3:n.540+44A>G
ENST00000330722.6:c.540+44A>G ENSP00000369317.3:n.540+44A>G
ENST00000549898.5:n.61+44A>G
NM_005554.3:c.540+44A>G NP_005545.1:n.540+44A>G
NM_005554.4:c.540+44A>G MANE Select NP_005545.1:n.540+44A>G
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