Canonical Allele Identifier: CA1933418154

Gene: COL17A1

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.104034112G= , CM000672.2:g.104034112G=	GRCh38
NC_000010.10:g.105793870G= , CM000672.1:g.105793870G=	GRCh37
NC_000010.9:g.105783860G=	NCBI36
NG_007069.1:g.56769C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000369733.8:c.3743C=	ENSP00000358748.3:p.Ala1248=
ENST00000647647.1:c.19C=
ENST00000648076.2:c.3989C= MANE Select	ENSP00000497653.1:p.Ala1330=
ENST00000353479.9:c.3989C=	ENSP00000340937.5:p.Ala1330=
ENST00000369733.7:c.3743C=	ENSP00000358748.3:p.Ala1248=
NM_000494.3:c.3989C=	NP_000485.3:p.Ala1330=
NM_000494.4:c.3989C= MANE Select	NP_000485.3:p.Ala1330=