Canonical Allele Identifier: CA5677693
Gene: COL17A1 HGNC NCBI

Linked Data

dbSNP Id: rs369227942
ExAC: 10:105793661 G / C
gnomAD v2: 10-105793661-G-C
gnomAD v4: 10-104033903-G-C
MyVariant Identifiers: chr10:g.105793661G>C (hg19) chr10:g.104033903G>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.104033903G>C , CM000672.2:g.104033903G>C GRCh38
NC_000010.10:g.105793661G>C , CM000672.1:g.105793661G>C GRCh37
NC_000010.9:g.105783651G>C NCBI36
NG_007069.1:g.56978C>G

Transcript Alleles

HGVS Amino-acid change
ENST00000369733.8:c.3910+42C>G ENSP00000358748.3:n.3910+42C>G
ENST00000647647.1:c.186+42C>G
ENST00000648076.2:c.4156+42C>G MANE Select ENSP00000497653.1:n.4156+42C>G
ENST00000353479.9:c.4156+42C>G ENSP00000340937.5:n.4156+42C>G
ENST00000369733.7:c.3910+42C>G ENSP00000358748.3:n.3910+42C>G
NM_000494.3:c.4156+42C>G NP_000485.3:n.4156+42C>G
NM_000494.4:c.4156+42C>G MANE Select NP_000485.3:n.4156+42C>G
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