Canonical Allele Identifier: CA212475119
Gene: COL17A1 HGNC NCBI

Linked Data

dbSNP Id: rs904282640
gnomAD v3: 10-104050494-A-G
gnomAD v4: 10-104050494-A-G
MyVariant Identifiers: chr10:g.105810252A>G (hg19) chr10:g.104050494A>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.104050494A>G , CM000672.2:g.104050494A>G GRCh38
NC_000010.10:g.105810252A>G , CM000672.1:g.105810252A>G GRCh37
NC_000010.9:g.105800242A>G NCBI36
NG_007069.1:g.40387T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000369733.8:c.2128+127T>C ENSP00000358748.3:n.2128+127T>C
ENST00000648076.2:c.2128+127T>C MANE Select ENSP00000497653.1:n.2128+127T>C
ENST00000353479.9:c.2128+127T>C ENSP00000340937.5:n.2128+127T>C
ENST00000369733.7:c.2128+127T>C ENSP00000358748.3:n.2128+127T>C
NM_000494.3:c.2128+127T>C NP_000485.3:n.2128+127T>C
NM_000494.4:c.2128+127T>C MANE Select NP_000485.3:n.2128+127T>C
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