Canonical Allele Identifier: CA2533034841

Gene: COL17A1

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.104033916A>G , CM000672.2:g.104033916A>G	GRCh38
NC_000010.10:g.105793674A>G , CM000672.1:g.105793674A>G	GRCh37
NC_000010.9:g.105783664A>G	NCBI36
NG_007069.1:g.56965T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000369733.8:c.3910+29T>C	ENSP00000358748.3:n.3910+29T>C
ENST00000647647.1:c.186+29T>C
ENST00000648076.2:c.4156+29T>C MANE Select	ENSP00000497653.1:n.4156+29T>C
ENST00000353479.9:c.4156+29T>C	ENSP00000340937.5:n.4156+29T>C
ENST00000369733.7:c.3910+29T>C	ENSP00000358748.3:n.3910+29T>C
NM_000494.3:c.4156+29T>C	NP_000485.3:n.4156+29T>C
NM_000494.4:c.4156+29T>C MANE Select	NP_000485.3:n.4156+29T>C