Canonical Allele Identifier: CA1933418184

Gene: COL17A1

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.104034129G= , CM000672.2:g.104034129G=	GRCh38
NC_000010.10:g.105793887G= , CM000672.1:g.105793887G=	GRCh37
NC_000010.9:g.105783877G=	NCBI36
NG_007069.1:g.56752C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000369733.8:c.3726C=	ENSP00000358748.3:p.Gly1242=
ENST00000647647.1:c.2C=
ENST00000648076.2:c.3972C= MANE Select	ENSP00000497653.1:p.Gly1324=
ENST00000353479.9:c.3972C=	ENSP00000340937.5:p.Gly1324=
ENST00000369733.7:c.3726C=	ENSP00000358748.3:p.Gly1242=
NM_000494.3:c.3972C=	NP_000485.3:p.Gly1324=
NM_000494.4:c.3972C= MANE Select	NP_000485.3:p.Gly1324=