Canonical Allele Identifier: CA378065920
Gene: COL17A1 HGNC NCBI

Linked Data

dbSNP Id: rs1476975111
gnomAD v2: 10-105794389-G-C
gnomAD v4: 10-104034631-G-C
MyVariant Identifiers: chr10:g.105794389G>C (hg19) chr10:g.104034631G>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.104034631G>C , CM000672.2:g.104034631G>C GRCh38
NC_000010.10:g.105794389G>C , CM000672.1:g.105794389G>C GRCh37
NC_000010.9:g.105784379G>C NCBI36
NG_007069.1:g.56250C>G

Transcript Alleles

HGVS Amino-acid change
ENST00000369733.8:c.3510C>G ENSP00000358748.3:p.Ser1170Arg
ENST00000648076.2:c.3756C>G MANE Select ENSP00000497653.1:p.Ser1252Arg
ENST00000353479.9:c.3756C>G ENSP00000340937.5:p.Ser1252Arg
ENST00000369733.7:c.3510C>G ENSP00000358748.3:p.Ser1170Arg
NM_000494.3:c.3756C>G NP_000485.3:p.Ser1252Arg
NM_000494.4:c.3756C>G MANE Select NP_000485.3:p.Ser1252Arg
Search 100 bp 5'
Search 100 bp 3'