Canonical Allele Identifier: CA595675073

Gene: COL17A1

Linked Data

• dbSNP Id: rs544934669
• gnomAD v2: 10-105810319-T-A
• gnomAD v3: 10-104050561-T-A
• gnomAD v4: 10-104050561-T-A
• MyVariant Identifiers: chr10:g.105810319T>A (hg19) ; chr10:g.104050561T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.104050561T>A , CM000672.2:g.104050561T>A	GRCh38
NC_000010.10:g.105810319T>A , CM000672.1:g.105810319T>A	GRCh37
NC_000010.9:g.105800309T>A	NCBI36
NG_007069.1:g.40320A>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000369733.8:c.2128+60A>T	ENSP00000358748.3:n.2128+60A>T
ENST00000648076.2:c.2128+60A>T MANE Select	ENSP00000497653.1:n.2128+60A>T
ENST00000353479.9:c.2128+60A>T	ENSP00000340937.5:n.2128+60A>T
ENST00000369733.7:c.2128+60A>T	ENSP00000358748.3:n.2128+60A>T
NM_000494.3:c.2128+60A>T	NP_000485.3:n.2128+60A>T
NM_000494.4:c.2128+60A>T MANE Select	NP_000485.3:n.2128+60A>T