Canonical Allele Identifier: CA378072976
Gene: COL17A1 HGNC NCBI

Linked Data

gnomAD v4: 10-104057059-A-G
MyVariant Identifiers: chr10:g.105816817A>G (hg19) chr10:g.104057059A>G (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.104057059A>G , CM000672.2:g.104057059A>G GRCh38
NC_000010.10:g.105816817A>G , CM000672.1:g.105816817A>G GRCh37
NC_000010.9:g.105806807A>G NCBI36
NG_007069.1:g.33822T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000369733.8:c.1381T>C ENSP00000358748.3:p.Cys461Arg
ENST00000648076.2:c.1381T>C MANE Select ENSP00000497653.1:p.Cys461Arg
ENST00000650263.1:c.1333T>C ENSP00000497850.1:p.Cys445Arg
ENST00000353479.9:c.1381T>C ENSP00000340937.5:p.Cys461Arg
ENST00000369733.7:c.1381T>C ENSP00000358748.3:p.Cys461Arg
NM_000494.3:c.1381T>C NP_000485.3:p.Cys461Arg
NM_000494.4:c.1381T>C MANE Select NP_000485.3:p.Cys461Arg
Search 100 bp 5'
Search 100 bp 3'