Canonical Allele Identifier: CA5677718
Gene: COL17A1 HGNC NCBI
MyVariant.info:
GRCh38 chr10:g.104033992T>G
GRCh37 chr10:g.105793750T>G
Revel Score:
ENST00000353479 0.280
ENST00000369733 0.280
gnomAD v2:
10:105793750 T / G
gnomAD v4:
chr10-104033992-T-G
Joint Max Group AF 6.8e-7 (NFE)
Exomes Max Group AF 7.2e-7 (NFE)
dbSNP:
17116350
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.104033992T>G , CM000672.2:g.104033992T>G GRCh38
NC_000010.10:g.105793750T>G , CM000672.1:g.105793750T>G GRCh37
NC_000010.9:g.105783740T>G NCBI36
NG_007069.1:g.56889A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000369733.8:c.3863A>C ENSP00000358748.3:p.Asp1288Ala
ENST00000647647.1:c.139A>C
ENST00000648076.2:c.4109A>C MANE Select ENSP00000497653.1:p.Asp1370Ala
ENST00000353479.9:c.4109A>C ENSP00000340937.5:p.Asp1370Ala
ENST00000369733.7:c.3863A>C ENSP00000358748.3:p.Asp1288Ala
NM_000494.3:c.4109A>C NP_000485.3:p.Asp1370Ala
NM_000494.4:c.4109A>C MANE Select NP_000485.3:p.Asp1370Ala
Search 100 bp 5'
Search 100 bp 3'