Canonical Allele Identifier: CA5679350

Gene: COL17A1

Linked Data

• dbSNP Id: rs762128037
• ExAC: 10:105824356 T / C
• gnomAD v4: 10-104064598-T-C
• MyVariant Identifiers: chr10:g.105824356T>C (hg19) ; chr10:g.104064598T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.104064598T>C , CM000672.2:g.104064598T>C	GRCh38
NC_000010.10:g.105824356T>C , CM000672.1:g.105824356T>C	GRCh37
NC_000010.9:g.105814346T>C	NCBI36
NG_007069.1:g.26283A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000369733.8:c.608-2A>G	ENSP00000358748.3:n.608-2A>G
ENST00000648076.2:c.608-2A>G MANE Select	ENSP00000497653.1:n.608-2A>G
ENST00000649118.1:n.723-2A>G
ENST00000650263.1:c.560-2A>G	ENSP00000497850.1:n.560-2A>G
ENST00000353479.9:c.608-2A>G	ENSP00000340937.5:n.608-2A>G
ENST00000369733.7:c.608-2A>G	ENSP00000358748.3:n.608-2A>G
ENST00000393211.3:c.608-2A>G	ENSP00000376905.3:n.608-2A>G
NM_000494.3:c.608-2A>G	NP_000485.3:n.608-2A>G
NM_000494.4:c.608-2A>G MANE Select	NP_000485.3:n.608-2A>G