Canonical Allele Identifier: CA1933374469

Gene: COL17A1

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.104064445C= , CM000672.2:g.104064445C=	GRCh38
NC_000010.10:g.105824203C= , CM000672.1:g.105824203C=	GRCh37
NC_000010.9:g.105814193C=	NCBI36
NG_007069.1:g.26436G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000369733.8:c.759G=	ENSP00000358748.3:p.Ala253=
ENST00000648076.2:c.759G= MANE Select	ENSP00000497653.1:p.Ala253=
ENST00000649118.1:n.874G=
ENST00000650263.1:c.711G=	ENSP00000497850.1:p.Ala237=
ENST00000353479.9:c.759G=	ENSP00000340937.5:p.Ala253=
ENST00000369733.7:c.759G=	ENSP00000358748.3:p.Ala253=
ENST00000393211.3:c.759G=	ENSP00000376905.3:p.Ala253=
ENST00000488320.1:n.104G=
NM_000494.3:c.759G=	NP_000485.3:p.Ala253=
NM_000494.4:c.759G= MANE Select	NP_000485.3:p.Ala253=