Canonical Allele Identifier: CA378065539

Gene: COL17A1

Linked Data

• MyVariant Identifiers: chr10:g.105793966C>A (hg19) ; chr10:g.104034208C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.104034208C>A , CM000672.2:g.104034208C>A	GRCh38
NC_000010.10:g.105793966C>A , CM000672.1:g.105793966C>A	GRCh37
NC_000010.9:g.105783956C>A	NCBI36
NG_007069.1:g.56673G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000369733.8:c.3647G>T	ENSP00000358748.3:p.Ser1216Ile
ENST00000648076.2:c.3893G>T MANE Select	ENSP00000497653.1:p.Ser1298Ile
ENST00000353479.9:c.3893G>T	ENSP00000340937.5:p.Ser1298Ile
ENST00000369733.7:c.3647G>T	ENSP00000358748.3:p.Ser1216Ile
NM_000494.3:c.3893G>T	NP_000485.3:p.Ser1298Ile
NM_000494.4:c.3893G>T MANE Select	NP_000485.3:p.Ser1298Ile