Canonical Allele Identifier: CA595672944

Gene: COL17A1

Linked Data

• dbSNP Id: rs1376809006
• gnomAD v2: 10-105793669-C-A
• MyVariant Identifiers: chr10:g.105793669C>A (hg19) ; chr10:g.104033911C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.104033911C>A , CM000672.2:g.104033911C>A	GRCh38
NC_000010.10:g.105793669C>A , CM000672.1:g.105793669C>A	GRCh37
NC_000010.9:g.105783659C>A	NCBI36
NG_007069.1:g.56970G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000369733.8:c.3910+34G>T	ENSP00000358748.3:n.3910+34G>T
ENST00000647647.1:c.186+34G>T
ENST00000648076.2:c.4156+34G>T MANE Select	ENSP00000497653.1:n.4156+34G>T
ENST00000353479.9:c.4156+34G>T	ENSP00000340937.5:n.4156+34G>T
ENST00000369733.7:c.3910+34G>T	ENSP00000358748.3:n.3910+34G>T
NM_000494.3:c.4156+34G>T	NP_000485.3:n.4156+34G>T
NM_000494.4:c.4156+34G>T MANE Select	NP_000485.3:n.4156+34G>T