Canonical Allele Identifier: CA1933408577

Gene: COL17A1

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.104057066G= , CM000672.2:g.104057066G=	GRCh38
NC_000010.10:g.105816824G= , CM000672.1:g.105816824G=	GRCh37
NC_000010.9:g.105806814G=	NCBI36
NG_007069.1:g.33815C=

Transcript Alleles

HGVS	Amino-acid change
ENST00000369733.8:c.1374C=	ENSP00000358748.3:p.Cys458=
ENST00000648076.2:c.1374C= MANE Select	ENSP00000497653.1:p.Cys458=
ENST00000650263.1:c.1326C=	ENSP00000497850.1:p.Cys442=
ENST00000353479.9:c.1374C=	ENSP00000340937.5:p.Cys458=
ENST00000369733.7:c.1374C=	ENSP00000358748.3:p.Cys458=
NM_000494.3:c.1374C=	NP_000485.3:p.Cys458=
NM_000494.4:c.1374C= MANE Select	NP_000485.3:p.Cys458=