Canonical Allele Identifier: CA212475170

Gene: COL17A1

Linked Data

• dbSNP Id: rs964298121
• gnomAD v3: 10-104050547-C-G
• gnomAD v4: 10-104050547-C-G
• MyVariant Identifiers: chr10:g.105810305C>G (hg19) ; chr10:g.104050547C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.104050547C>G , CM000672.2:g.104050547C>G	GRCh38
NC_000010.10:g.105810305C>G , CM000672.1:g.105810305C>G	GRCh37
NC_000010.9:g.105800295C>G	NCBI36
NG_007069.1:g.40334G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000369733.8:c.2128+74G>C	ENSP00000358748.3:n.2128+74G>C
ENST00000648076.2:c.2128+74G>C MANE Select	ENSP00000497653.1:n.2128+74G>C
ENST00000353479.9:c.2128+74G>C	ENSP00000340937.5:n.2128+74G>C
ENST00000369733.7:c.2128+74G>C	ENSP00000358748.3:n.2128+74G>C
NM_000494.3:c.2128+74G>C	NP_000485.3:n.2128+74G>C
NM_000494.4:c.2128+74G>C MANE Select	NP_000485.3:n.2128+74G>C