Canonical Allele Identifier: CA6582871
Gene: KRT5 HGNC NCBI

Linked Data

dbSNP Id: rs367950934
ExAC: 12:52913778 G / A
gnomAD v2: 12-52913778-G-A
gnomAD v3: 12-52519994-G-A
gnomAD v4: 12-52519994-G-A
MyVariant Identifiers: chr12:g.52913778G>A (hg19) chr12:g.52519994G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.52519994G>A , CM000674.2:g.52519994G>A GRCh38
NC_000012.11:g.52913778G>A , CM000674.1:g.52913778G>A GRCh37
NC_000012.10:g.51200045G>A NCBI36
NG_008297.1:g.5466C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000252242.9:c.303C>T MANE Select ENSP00000252242.4:p.Ala101=
ENST00000252242.8:c.303C>T ENSP00000252242.4:p.Ala101=
ENST00000546577.1:c.303C>T ENSP00000449651.1:p.Ala101=
ENST00000549420.1:c.44-71C>T ENSP00000447209.1:n.44-71C>T
ENST00000551275.1:c.198C>T ENSP00000448041.1:p.Ala66=
ENST00000552629.5:n.401C>T
NM_000424.3:c.303C>T NP_000415.2:p.Ala101=
NM_000424.4:c.303C>T MANE Select NP_000415.2:p.Ala101=
Search 100 bp 5'
Search 100 bp 3'