Canonical Allele Identifier: CA378079219

Gene: COL17A1

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.104070571T>C , CM000672.2:g.104070571T>C	GRCh38
NC_000010.10:g.105830329T>C , CM000672.1:g.105830329T>C	GRCh37
NC_000010.9:g.105820319T>C	NCBI36
NG_007069.1:g.20310A>G

Transcript Alleles

HGVS	Amino-acid Change
NM_000494.4:c.464-2A>G MANE Select	NP_000485.3:n.464-2A>G
ENST00000648076.2:c.464-2A>G MANE Select	ENSP00000497653.1:n.464-2A>G
NM_000494.3:c.464-2A>G	NP_000485.3:n.464-2A>G
ENST00000353479.9:c.464-2A>G	ENSP00000340937.5:n.464-2A>G
ENST00000369733.7:c.464-2A>G	ENSP00000358748.3:n.464-2A>G
ENST00000369733.8:c.464-2A>G	ENSP00000358748.3:n.464-2A>G
ENST00000393211.3:c.464-2A>G	ENSP00000376905.3:n.464-2A>G
ENST00000483876.1:n.514-2A>G
ENST00000649118.1:n.579-2A>G
ENST00000650263.1:c.416-2A>G	ENSP00000497850.1:n.416-2A>G