Canonical Allele Identifier: CA378070207

Gene: COL17A1

Linked Data

• MyVariant Identifiers: chr10:g.105812895T>G (hg19) ; chr10:g.104053137T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.104053137T>G , CM000672.2:g.104053137T>G	GRCh38
NC_000010.10:g.105812895T>G , CM000672.1:g.105812895T>G	GRCh37
NC_000010.9:g.105802885T>G	NCBI36
NG_007069.1:g.37744A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000369733.8:c.1835-2A>C	ENSP00000358748.3:n.1835-2A>C
ENST00000648076.2:c.1835-2A>C MANE Select	ENSP00000497653.1:n.1835-2A>C
ENST00000650263.1:c.1787-2A>C	ENSP00000497850.1:n.1787-2A>C
ENST00000353479.9:c.1835-2A>C	ENSP00000340937.5:n.1835-2A>C
ENST00000369733.7:c.1835-2A>C	ENSP00000358748.3:n.1835-2A>C
NM_000494.3:c.1835-2A>C	NP_000485.3:n.1835-2A>C
NM_000494.4:c.1835-2A>C MANE Select	NP_000485.3:n.1835-2A>C