Canonical Allele Identifier: CA378067344
Gene: COL17A1 HGNC NCBI

Linked Data

MyVariant Identifiers: chr10:g.105797526T>A (hg19) chr10:g.104037768T>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.104037768T>A , CM000672.2:g.104037768T>A GRCh38
NC_000010.10:g.105797526T>A , CM000672.1:g.105797526T>A GRCh37
NC_000010.9:g.105787516T>A NCBI36
NG_007069.1:g.53113A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000369733.8:c.2941A>T ENSP00000358748.3:p.Ser981Cys
ENST00000648076.2:c.3076A>T MANE Select ENSP00000497653.1:p.Ser1026Cys
ENST00000353479.9:c.3076A>T ENSP00000340937.5:p.Ser1026Cys
ENST00000369733.7:c.2941A>T ENSP00000358748.3:p.Ser981Cys
NM_000494.3:c.3076A>T NP_000485.3:p.Ser1026Cys
NM_000494.4:c.3076A>T MANE Select NP_000485.3:p.Ser1026Cys
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