Canonical Allele Identifier: CA6580860
Gene: KRT6B HGNC NCBI

Linked Data

dbSNP Id: rs759570731
ExAC: 12:52845438 T / C
gnomAD v2: 12-52845438-T-C
gnomAD v4: 12-52451654-T-C
MyVariant Identifiers: chr12:g.52845438T>C (hg19) chr12:g.52451654T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.52451654T>C , CM000674.2:g.52451654T>C GRCh38
NC_000012.11:g.52845438T>C , CM000674.1:g.52845438T>C GRCh37
NC_000012.10:g.51131705T>C NCBI36
NG_008299.1:g.5473A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000252252.4:c.425A>G MANE Select ENSP00000252252.3:p.Gln142Arg
ENST00000252252.3:c.425A>G ENSP00000252252.3:p.Gln142Arg
NM_005555.3:c.425A>G NP_005546.2:p.Gln142Arg
NM_005555.4:c.425A>G MANE Select NP_005546.2:p.Gln142Arg
Search 100 bp 5'
Search 100 bp 3'