Canonical Allele Identifier: CA212475094
Gene: COL17A1 HGNC NCBI

Linked Data

dbSNP Id: rs752901708
gnomAD v2: 10-105810251-G-C
gnomAD v3: 10-104050493-G-C
gnomAD v4: 10-104050493-G-C
MyVariant Identifiers: chr10:g.105810251G>C (hg19) chr10:g.104050493G>C (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.104050493G>C , CM000672.2:g.104050493G>C GRCh38
NC_000010.10:g.105810251G>C , CM000672.1:g.105810251G>C GRCh37
NC_000010.9:g.105800241G>C NCBI36
NG_007069.1:g.40388C>G

Transcript Alleles

HGVS Amino-acid change
ENST00000369733.8:c.2128+128C>G ENSP00000358748.3:n.2128+128C>G
ENST00000648076.2:c.2128+128C>G MANE Select ENSP00000497653.1:n.2128+128C>G
ENST00000353479.9:c.2128+128C>G ENSP00000340937.5:n.2128+128C>G
ENST00000369733.7:c.2128+128C>G ENSP00000358748.3:n.2128+128C>G
NM_000494.3:c.2128+128C>G NP_000485.3:n.2128+128C>G
NM_000494.4:c.2128+128C>G MANE Select NP_000485.3:n.2128+128C>G
Search 100 bp 5'
Search 100 bp 3'