Canonical Allele Identifier: CA212475090
Gene: COL17A1 HGNC NCBI

Linked Data

dbSNP Id: rs767867404
gnomAD v4: 10-104050486-T-C
MyVariant Identifiers: chr10:g.105810244T>C (hg19) chr10:g.104050486T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.104050486T>C , CM000672.2:g.104050486T>C GRCh38
NC_000010.10:g.105810244T>C , CM000672.1:g.105810244T>C GRCh37
NC_000010.9:g.105800234T>C NCBI36
NG_007069.1:g.40395A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000369733.8:c.2128+135A>G ENSP00000358748.3:n.2128+135A>G
ENST00000648076.2:c.2128+135A>G MANE Select ENSP00000497653.1:n.2128+135A>G
ENST00000353479.9:c.2128+135A>G ENSP00000340937.5:n.2128+135A>G
ENST00000369733.7:c.2128+135A>G ENSP00000358748.3:n.2128+135A>G
NM_000494.3:c.2128+135A>G NP_000485.3:n.2128+135A>G
NM_000494.4:c.2128+135A>G MANE Select NP_000485.3:n.2128+135A>G
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