Canonical Allele Identifier: CA378065215
Gene: COL17A1 HGNC NCBI

Linked Data

MyVariant Identifiers: chr10:g.105793861T>A (hg19) chr10:g.104034103T>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.104034103T>A , CM000672.2:g.104034103T>A GRCh38
NC_000010.10:g.105793861T>A , CM000672.1:g.105793861T>A GRCh37
NC_000010.9:g.105783851T>A NCBI36
NG_007069.1:g.56778A>T

Transcript Alleles

HGVS Amino-acid change
ENST00000369733.8:c.3752A>T ENSP00000358748.3:p.Asp1251Val
ENST00000647647.1:c.28A>T
ENST00000648076.2:c.3998A>T MANE Select ENSP00000497653.1:p.Asp1333Val
ENST00000353479.9:c.3998A>T ENSP00000340937.5:p.Asp1333Val
ENST00000369733.7:c.3752A>T ENSP00000358748.3:p.Asp1251Val
NM_000494.3:c.3998A>T NP_000485.3:p.Asp1333Val
NM_000494.4:c.3998A>T MANE Select NP_000485.3:p.Asp1333Val
Search 100 bp 5'
Search 100 bp 3'