Canonical Allele Identifier: CA212450390

Gene: COL17A1

Linked Data

• dbSNP Id: rs970609396
• gnomAD v4: 10-104034466-G-A
• MyVariant Identifiers: chr10:g.105794224G>A (hg19) ; chr10:g.104034466G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.104034466G>A , CM000672.2:g.104034466G>A	GRCh38
NC_000010.10:g.105794224G>A , CM000672.1:g.105794224G>A	GRCh37
NC_000010.9:g.105784214G>A	NCBI36
NG_007069.1:g.56415C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000369733.8:c.3521-132C>T	ENSP00000358748.3:n.3521-132C>T
ENST00000648076.2:c.3767-132C>T MANE Select	ENSP00000497653.1:n.3767-132C>T
ENST00000353479.9:c.3767-132C>T	ENSP00000340937.5:n.3767-132C>T
ENST00000369733.7:c.3521-132C>T	ENSP00000358748.3:n.3521-132C>T
NM_000494.3:c.3767-132C>T	NP_000485.3:n.3767-132C>T
NM_000494.4:c.3767-132C>T MANE Select	NP_000485.3:n.3767-132C>T