Canonical Allele Identifier: CA595685441

Gene: COL17A1

Linked Data

• dbSNP Id: rs1175306908
• gnomAD v2: 10-105831741-G-A
• MyVariant Identifiers: chr10:g.105831741G>A (hg19) ; chr10:g.104071983G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.104071983G>A , CM000672.2:g.104071983G>A	GRCh38
NC_000010.10:g.105831741G>A , CM000672.1:g.105831741G>A	GRCh37
NC_000010.9:g.105821731G>A	NCBI36
NG_007069.1:g.18898C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000369733.8:c.463+49C>T	ENSP00000358748.3:n.463+49C>T
ENST00000648076.2:c.463+49C>T MANE Select	ENSP00000497653.1:n.463+49C>T
ENST00000649118.1:n.578+49C>T
ENST00000650263.1:c.415+49C>T	ENSP00000497850.1:n.415+49C>T
ENST00000353479.9:c.463+49C>T	ENSP00000340937.5:n.463+49C>T
ENST00000369733.7:c.463+49C>T	ENSP00000358748.3:n.463+49C>T
ENST00000393211.3:c.463+49C>T	ENSP00000376905.3:n.463+49C>T
ENST00000483876.1:n.513+49C>T
NM_000494.3:c.463+49C>T	NP_000485.3:n.463+49C>T
NM_000494.4:c.463+49C>T MANE Select	NP_000485.3:n.463+49C>T