Canonical Allele Identifier: CA2610796353

Gene: COL17A1

Linked Data

• gnomAD v4: 10-104033924-G-A

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.104033924G>A , CM000672.2:g.104033924G>A	GRCh38
NC_000010.10:g.105793682G>A , CM000672.1:g.105793682G>A	GRCh37
NC_000010.9:g.105783672G>A	NCBI36
NG_007069.1:g.56957C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000369733.8:c.3910+21C>T	ENSP00000358748.3:n.3910+21C>T
ENST00000647647.1:c.186+21C>T
ENST00000648076.2:c.4156+21C>T MANE Select	ENSP00000497653.1:n.4156+21C>T
ENST00000353479.9:c.4156+21C>T	ENSP00000340937.5:n.4156+21C>T
ENST00000369733.7:c.3910+21C>T	ENSP00000358748.3:n.3910+21C>T
NM_000494.3:c.4156+21C>T	NP_000485.3:n.4156+21C>T
NM_000494.4:c.4156+21C>T MANE Select	NP_000485.3:n.4156+21C>T