Canonical Allele Identifier: CA378067083
Gene: COL17A1 HGNC NCBI

Linked Data

MyVariant Identifiers: chr10:g.105797399A>T (hg19) chr10:g.104037641A>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.104037641A>T , CM000672.2:g.104037641A>T GRCh38
NC_000010.10:g.105797399A>T , CM000672.1:g.105797399A>T GRCh37
NC_000010.9:g.105787389A>T NCBI36
NG_007069.1:g.53240T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000369733.8:c.3068T>A ENSP00000358748.3:p.Leu1023Ter
ENST00000648076.2:c.3203T>A MANE Select ENSP00000497653.1:p.Leu1068Ter
ENST00000353479.9:c.3203T>A ENSP00000340937.5:p.Leu1068Ter
ENST00000369733.7:c.3068T>A ENSP00000358748.3:p.Leu1023Ter
NM_000494.3:c.3203T>A NP_000485.3:p.Leu1068Ter
NM_000494.4:c.3203T>A MANE Select NP_000485.3:p.Leu1068Ter
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