Canonical Allele Identifier: CA378065514
Gene: COL17A1 HGNC NCBI

Linked Data

dbSNP Id: rs1470657852
gnomAD v2: 10-105793957-A-G
gnomAD v4: 10-104034199-A-G
MyVariant Identifiers: chr10:g.105793957A>G (hg19) chr10:g.104034199A>G (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.104034199A>G , CM000672.2:g.104034199A>G GRCh38
NC_000010.10:g.105793957A>G , CM000672.1:g.105793957A>G GRCh37
NC_000010.9:g.105783947A>G NCBI36
NG_007069.1:g.56682T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000369733.8:c.3656T>C ENSP00000358748.3:p.Val1219Ala
ENST00000648076.2:c.3902T>C MANE Select ENSP00000497653.1:p.Val1301Ala
ENST00000353479.9:c.3902T>C ENSP00000340937.5:p.Val1301Ala
ENST00000369733.7:c.3656T>C ENSP00000358748.3:p.Val1219Ala
NM_000494.3:c.3902T>C NP_000485.3:p.Val1301Ala
NM_000494.4:c.3902T>C MANE Select NP_000485.3:p.Val1301Ala
Search 100 bp 5'
Search 100 bp 3'