Canonical Allele Identifier: CA378065848
Gene: COL17A1 HGNC NCBI

Linked Data

MyVariant Identifiers: chr10:g.105794074A>C (hg19) chr10:g.104034316A>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.104034316A>C , CM000672.2:g.104034316A>C GRCh38
NC_000010.10:g.105794074A>C , CM000672.1:g.105794074A>C GRCh37
NC_000010.9:g.105784064A>C NCBI36
NG_007069.1:g.56565T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000369733.8:c.3539T>G ENSP00000358748.3:p.Phe1180Cys
ENST00000648076.2:c.3785T>G MANE Select ENSP00000497653.1:p.Phe1262Cys
ENST00000353479.9:c.3785T>G ENSP00000340937.5:p.Phe1262Cys
ENST00000369733.7:c.3539T>G ENSP00000358748.3:p.Phe1180Cys
NM_000494.3:c.3785T>G NP_000485.3:p.Phe1262Cys
NM_000494.4:c.3785T>G MANE Select NP_000485.3:p.Phe1262Cys
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