Canonical Allele Identifier: CA378065529
Gene: COL17A1 HGNC NCBI

Linked Data

ClinVar Variation Id: 2772397
ClinVar RCV Id: RCV003576680
MyVariant Identifiers: chr10:g.105793963G>C (hg19) chr10:g.104034205G>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.104034205G>C , CM000672.2:g.104034205G>C GRCh38
NC_000010.10:g.105793963G>C , CM000672.1:g.105793963G>C GRCh37
NC_000010.9:g.105783953G>C NCBI36
NG_007069.1:g.56676C>G

Transcript Alleles

HGVS Amino-acid change
ENST00000369733.8:c.3650C>G ENSP00000358748.3:p.Ser1217Ter
ENST00000648076.2:c.3896C>G MANE Select ENSP00000497653.1:p.Ser1299Ter
ENST00000353479.9:c.3896C>G ENSP00000340937.5:p.Ser1299Ter
ENST00000369733.7:c.3650C>G ENSP00000358748.3:p.Ser1217Ter
NM_000494.3:c.3896C>G NP_000485.3:p.Ser1299Ter
NM_000494.4:c.3896C>G MANE Select NP_000485.3:p.Ser1299Ter
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