Canonical Allele Identifier: CA378067353
Gene: COL17A1 HGNC NCBI

Linked Data

MyVariant Identifiers: chr10:g.105797529C>G (hg19) chr10:g.104037771C>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.104037771C>G , CM000672.2:g.104037771C>G GRCh38
NC_000010.10:g.105797529C>G , CM000672.1:g.105797529C>G GRCh37
NC_000010.9:g.105787519C>G NCBI36
NG_007069.1:g.53110G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000369733.8:c.2938G>C ENSP00000358748.3:p.Asp980His
ENST00000648076.2:c.3073G>C MANE Select ENSP00000497653.1:p.Asp1025His
ENST00000353479.9:c.3073G>C ENSP00000340937.5:p.Asp1025His
ENST00000369733.7:c.2938G>C ENSP00000358748.3:p.Asp980His
NM_000494.3:c.3073G>C NP_000485.3:p.Asp1025His
NM_000494.4:c.3073G>C MANE Select NP_000485.3:p.Asp1025His
Search 100 bp 5'
Search 100 bp 3'