Canonical Allele Identifier: CA2574660685

Gene: COL17A1

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.104034617C>G , CM000672.2:g.104034617C>G	GRCh38
NC_000010.10:g.105794375C>G , CM000672.1:g.105794375C>G	GRCh37
NC_000010.9:g.105784365C>G	NCBI36
NG_007069.1:g.56264G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000369733.8:c.3520+4G>C	ENSP00000358748.3:n.3520+4G>C
ENST00000648076.2:c.3766+4G>C MANE Select	ENSP00000497653.1:n.3766+4G>C
ENST00000353479.9:c.3766+4G>C	ENSP00000340937.5:n.3766+4G>C
ENST00000369733.7:c.3520+4G>C	ENSP00000358748.3:n.3520+4G>C
NM_000494.3:c.3766+4G>C	NP_000485.3:n.3766+4G>C
NM_000494.4:c.3766+4G>C MANE Select	NP_000485.3:n.3766+4G>C