Canonical Allele Identifier: CA378065482
Gene: COL17A1 HGNC NCBI

Linked Data

MyVariant Identifiers: chr10:g.105793946T>C (hg19) chr10:g.104034188T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.104034188T>C , CM000672.2:g.104034188T>C GRCh38
NC_000010.10:g.105793946T>C , CM000672.1:g.105793946T>C GRCh37
NC_000010.9:g.105783936T>C NCBI36
NG_007069.1:g.56693A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000369733.8:c.3667A>G ENSP00000358748.3:p.Ser1223Gly
ENST00000648076.2:c.3913A>G MANE Select ENSP00000497653.1:p.Ser1305Gly
ENST00000353479.9:c.3913A>G ENSP00000340937.5:p.Ser1305Gly
ENST00000369733.7:c.3667A>G ENSP00000358748.3:p.Ser1223Gly
NM_000494.3:c.3913A>G NP_000485.3:p.Ser1305Gly
NM_000494.4:c.3913A>G MANE Select NP_000485.3:p.Ser1305Gly
Search 100 bp 5'
Search 100 bp 3'