Canonical Allele Identifier: CA378073001
Gene: COL17A1 HGNC NCBI

Linked Data

MyVariant Identifiers: chr10:g.105816831C>T (hg19) chr10:g.104057073C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.104057073C>T , CM000672.2:g.104057073C>T GRCh38
NC_000010.10:g.105816831C>T , CM000672.1:g.105816831C>T GRCh37
NC_000010.9:g.105806821C>T NCBI36
NG_007069.1:g.33808G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000369733.8:c.1367G>A ENSP00000358748.3:p.Cys456Tyr
ENST00000648076.2:c.1367G>A MANE Select ENSP00000497653.1:p.Cys456Tyr
ENST00000650263.1:c.1319G>A ENSP00000497850.1:p.Cys440Tyr
ENST00000353479.9:c.1367G>A ENSP00000340937.5:p.Cys456Tyr
ENST00000369733.7:c.1367G>A ENSP00000358748.3:p.Cys456Tyr
NM_000494.3:c.1367G>A NP_000485.3:p.Cys456Tyr
NM_000494.4:c.1367G>A MANE Select NP_000485.3:p.Cys456Tyr
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