Canonical Allele Identifier: CA5679257

Gene: COL17A1

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.104062339C>T , CM000672.2:g.104062339C>T	GRCh38
NC_000010.10:g.105822097C>T , CM000672.1:g.105822097C>T	GRCh37
NC_000010.9:g.105812087C>T	NCBI36
NG_007069.1:g.28542G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_000494.4:c.839-10G>A MANE Select	NP_000485.3:n.839-10G>A
ENST00000648076.2:c.839-10G>A MANE Select	ENSP00000497653.1:n.839-10G>A
NM_000494.3:c.839-10G>A	NP_000485.3:n.839-10G>A
ENST00000353479.9:c.839-10G>A	ENSP00000340937.5:n.839-10G>A
ENST00000369733.7:c.839-10G>A	ENSP00000358748.3:n.839-10G>A
ENST00000369733.8:c.839-10G>A	ENSP00000358748.3:n.839-10G>A
ENST00000393211.3:c.839-10G>A	ENSP00000376905.3:n.839-10G>A
ENST00000488320.1:n.290-10G>A
ENST00000650263.1:c.791-10G>A	ENSP00000497850.1:n.791-10G>A