Canonical Allele Identifier: CA5678827
Gene: COL17A1 HGNC NCBI

Linked Data

dbSNP Id: rs771024311
ExAC: 10:105812861 T / C
gnomAD v2: 10-105812861-T-C
gnomAD v4: 10-104053103-T-C
MyVariant Identifiers: chr10:g.105812861T>C (hg19) chr10:g.104053103T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.104053103T>C , CM000672.2:g.104053103T>C GRCh38
NC_000010.10:g.105812861T>C , CM000672.1:g.105812861T>C GRCh37
NC_000010.9:g.105802851T>C NCBI36
NG_007069.1:g.37778A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000369733.8:c.1867A>G ENSP00000358748.3:p.Arg623Gly
ENST00000648076.2:c.1867A>G MANE Select ENSP00000497653.1:p.Arg623Gly
ENST00000353479.9:c.1867A>G ENSP00000340937.5:p.Arg623Gly
ENST00000369733.7:c.1867A>G ENSP00000358748.3:p.Arg623Gly
NM_000494.3:c.1867A>G NP_000485.3:p.Arg623Gly
NM_000494.4:c.1867A>G MANE Select NP_000485.3:p.Arg623Gly
Search 100 bp 5'
Search 100 bp 3'