Canonical Allele Identifier: CA378072990
Gene: COL17A1 HGNC NCBI

Linked Data

MyVariant Identifiers: chr10:g.105816825C>G (hg19) chr10:g.104057067C>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.104057067C>G , CM000672.2:g.104057067C>G GRCh38
NC_000010.10:g.105816825C>G , CM000672.1:g.105816825C>G GRCh37
NC_000010.9:g.105806815C>G NCBI36
NG_007069.1:g.33814G>C

Transcript Alleles

HGVS Amino-acid change
ENST00000369733.8:c.1373G>C ENSP00000358748.3:p.Cys458Ser
ENST00000648076.2:c.1373G>C MANE Select ENSP00000497653.1:p.Cys458Ser
ENST00000650263.1:c.1325G>C ENSP00000497850.1:p.Cys442Ser
ENST00000353479.9:c.1373G>C ENSP00000340937.5:p.Cys458Ser
ENST00000369733.7:c.1373G>C ENSP00000358748.3:p.Cys458Ser
NM_000494.3:c.1373G>C NP_000485.3:p.Cys458Ser
NM_000494.4:c.1373G>C MANE Select NP_000485.3:p.Cys458Ser
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