Canonical Allele Identifier: CA932075681
Gene: COL17A1 HGNC NCBI

Linked Data

dbSNP Id: rs1205521100
gnomAD v3: 10-104053177-C-T
gnomAD v4: 10-104053177-C-T
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.104053177C>T , CM000672.2:g.104053177C>T GRCh38
NC_000010.10:g.105812935C>T , CM000672.1:g.105812935C>T GRCh37
NC_000010.9:g.105802925C>T NCBI36
NG_007069.1:g.37704G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000369733.8:c.1835-42G>A ENSP00000358748.3:n.1835-42G>A
ENST00000648076.2:c.1835-42G>A MANE Select ENSP00000497653.1:n.1835-42G>A
ENST00000650263.1:c.1787-42G>A ENSP00000497850.1:n.1787-42G>A
ENST00000353479.9:c.1835-42G>A ENSP00000340937.5:n.1835-42G>A
ENST00000369733.7:c.1835-42G>A ENSP00000358748.3:n.1835-42G>A
NM_000494.3:c.1835-42G>A NP_000485.3:n.1835-42G>A
NM_000494.4:c.1835-42G>A MANE Select NP_000485.3:n.1835-42G>A
Search 100 bp 5'
Search 100 bp 3'