Canonical Allele Identifier: CA378077235
Gene: COL17A1 HGNC NCBI

Linked Data

MyVariant Identifiers: chr10:g.105824231G>C (hg19) chr10:g.104064473G>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.104064473G>C , CM000672.2:g.104064473G>C GRCh38
NC_000010.10:g.105824231G>C , CM000672.1:g.105824231G>C GRCh37
NC_000010.9:g.105814221G>C NCBI36
NG_007069.1:g.26408C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000369733.8:c.731C>G ENSP00000358748.3:p.Ser244Cys
ENST00000648076.2:c.731C>G MANE Select ENSP00000497653.1:p.Ser244Cys
ENST00000649118.1:n.846C>G
ENST00000650263.1:c.683C>G ENSP00000497850.1:p.Ser228Cys
ENST00000353479.9:c.731C>G ENSP00000340937.5:p.Ser244Cys
ENST00000369733.7:c.731C>G ENSP00000358748.3:p.Ser244Cys
ENST00000393211.3:c.731C>G ENSP00000376905.3:p.Ser244Cys
ENST00000488320.1:n.76C>G
NM_000494.3:c.731C>G NP_000485.3:p.Ser244Cys
NM_000494.4:c.731C>G MANE Select NP_000485.3:p.Ser244Cys
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