Canonical Allele Identifier: CA1933399524

Gene: COL17A1

Linked Data

• dbSNP Id: rs2086457634

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.104050466T>C , CM000672.2:g.104050466T>C	GRCh38
NC_000010.10:g.105810224T>C , CM000672.1:g.105810224T>C	GRCh37
NC_000010.9:g.105800214T>C	NCBI36
NG_007069.1:g.40415A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000369733.8:c.2128+155A>G	ENSP00000358748.3:n.2128+155A>G
ENST00000648076.2:c.2128+155A>G MANE Select	ENSP00000497653.1:n.2128+155A>G
ENST00000353479.9:c.2128+155A>G	ENSP00000340937.5:n.2128+155A>G
ENST00000369733.7:c.2128+155A>G	ENSP00000358748.3:n.2128+155A>G
NM_000494.3:c.2128+155A>G	NP_000485.3:n.2128+155A>G
NM_000494.4:c.2128+155A>G MANE Select	NP_000485.3:n.2128+155A>G