Canonical Allele Identifier: CA2580956458

Gene: COL17A1

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.104053174G>C , CM000672.2:g.104053174G>C	GRCh38
NC_000010.10:g.105812932G>C , CM000672.1:g.105812932G>C	GRCh37
NC_000010.9:g.105802922G>C	NCBI36
NG_007069.1:g.37707C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000369733.8:c.1835-39C>G	ENSP00000358748.3:n.1835-39C>G
ENST00000648076.2:c.1835-39C>G MANE Select	ENSP00000497653.1:n.1835-39C>G
ENST00000650263.1:c.1787-39C>G	ENSP00000497850.1:n.1787-39C>G
ENST00000353479.9:c.1835-39C>G	ENSP00000340937.5:n.1835-39C>G
ENST00000369733.7:c.1835-39C>G	ENSP00000358748.3:n.1835-39C>G
NM_000494.3:c.1835-39C>G	NP_000485.3:n.1835-39C>G
NM_000494.4:c.1835-39C>G MANE Select	NP_000485.3:n.1835-39C>G