Canonical Allele Identifier: CA384927319
Gene: KRT6B HGNC NCBI

Linked Data

gnomAD v4: 12-52451637-G-T
MyVariant Identifiers: chr12:g.52845421G>T (hg19) chr12:g.52451637G>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.52451637G>T , CM000674.2:g.52451637G>T GRCh38
NC_000012.11:g.52845421G>T , CM000674.1:g.52845421G>T GRCh37
NC_000012.10:g.51131688G>T NCBI36
NG_008299.1:g.5490C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000252252.4:c.442C>A MANE Select ENSP00000252252.3:p.Leu148Ile
ENST00000252252.3:c.442C>A ENSP00000252252.3:p.Leu148Ile
NM_005555.3:c.442C>A NP_005546.2:p.Leu148Ile
NM_005555.4:c.442C>A MANE Select NP_005546.2:p.Leu148Ile
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