Canonical Allele Identifier: CA2574666733

Gene: COL17A1

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.104064393G>A , CM000672.2:g.104064393G>A	GRCh38
NC_000010.10:g.105824151G>A , CM000672.1:g.105824151G>A	GRCh37
NC_000010.9:g.105814141G>A	NCBI36
NG_007069.1:g.26488C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000369733.8:c.766+45C>T	ENSP00000358748.3:n.766+45C>T
ENST00000648076.2:c.766+45C>T MANE Select	ENSP00000497653.1:n.766+45C>T
ENST00000649118.1:n.881+45C>T
ENST00000650263.1:c.718+45C>T	ENSP00000497850.1:n.718+45C>T
ENST00000353479.9:c.766+45C>T	ENSP00000340937.5:n.766+45C>T
ENST00000369733.7:c.766+45C>T	ENSP00000358748.3:n.766+45C>T
ENST00000393211.3:c.766+45C>T	ENSP00000376905.3:n.766+45C>T
ENST00000488320.1:n.111+45C>T
NM_000494.3:c.766+45C>T	NP_000485.3:n.766+45C>T
NM_000494.4:c.766+45C>T MANE Select	NP_000485.3:n.766+45C>T