Canonical Allele Identifier: CA1933374545

Gene: COL17A1

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.104064596A= , CM000672.2:g.104064596A=	GRCh38
NC_000010.10:g.105824354A= , CM000672.1:g.105824354A=	GRCh37
NC_000010.9:g.105814344A=	NCBI36
NG_007069.1:g.26285T=

Transcript Alleles

HGVS	Amino-acid change
ENST00000369733.8:c.608T=	ENSP00000358748.3:p.Val203=
ENST00000648076.2:c.608T= MANE Select	ENSP00000497653.1:p.Val203=
ENST00000649118.1:n.723T=
ENST00000650263.1:c.560T=	ENSP00000497850.1:p.Val187=
ENST00000353479.9:c.608T=	ENSP00000340937.5:p.Val203=
ENST00000369733.7:c.608T=	ENSP00000358748.3:p.Val203=
ENST00000393211.3:c.608T=	ENSP00000376905.3:p.Val203=
NM_000494.3:c.608T=	NP_000485.3:p.Val203=
NM_000494.4:c.608T= MANE Select	NP_000485.3:p.Val203=