×
UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
CA399483659
Gene: KRT14
HGNC
NCBI
Linked Data
dbSNP Id:
rs1327472230
gnomAD v2:
17-39743013-C-T
gnomAD v4:
17-41586761-C-T
MyVariant Identifiers:
chr17:g.39743013C>T (hg19)
chr17:g.41586761C>T (hg38)
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000017.11:g.41586761C>T , CM000679.2:g.41586761C>T
GRCh38
NC_000017.10:g.39743013C>T , CM000679.1:g.39743013C>T
GRCh37
NC_000017.9:g.36996539C>T
NCBI36
NG_008624.1:g.5135G>A
Transcript Alleles
HGVS
Amino-acid change
ENST00000167586.7:c.74G>A
MANE Select
ENSP00000167586.6:p.Gly25Glu
ENST00000167586.6:c.74G>A
ENSP00000167586.6:p.Gly25Glu
NM_000526.4:c.74G>A
NP_000517.2:p.Gly25Glu
NM_000526.5:c.74G>A
MANE Select
NP_000517.3:p.Gly25Glu
Search 100 bp 5'
Search 100 bp 3'