Canonical Allele Identifier: CA2789320505

Gene: COL17A1

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.104034348A>C , CM000672.2:g.104034348A>C	GRCh38
NC_000010.10:g.105794106A>C , CM000672.1:g.105794106A>C	GRCh37
NC_000010.9:g.105784096A>C	NCBI36
NG_007069.1:g.56533T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000369733.8:c.3521-14T>G	ENSP00000358748.3:n.3521-14T>G
ENST00000648076.2:c.3767-14T>G MANE Select	ENSP00000497653.1:n.3767-14T>G
ENST00000353479.9:c.3767-14T>G	ENSP00000340937.5:n.3767-14T>G
ENST00000369733.7:c.3521-14T>G	ENSP00000358748.3:n.3521-14T>G
NM_000494.3:c.3767-14T>G	NP_000485.3:n.3767-14T>G
NM_000494.4:c.3767-14T>G MANE Select	NP_000485.3:n.3767-14T>G