Canonical Allele Identifier: CA5677838
Gene: COL17A1 HGNC NCBI

Linked Data

dbSNP Id: rs751804651
ExAC: 10:105794370 G / A
gnomAD v2: 10-105794370-G-A
gnomAD v4: 10-104034612-G-A
MyVariant Identifiers: chr10:g.105794370G>A (hg19) chr10:g.104034612G>A (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.104034612G>A , CM000672.2:g.104034612G>A GRCh38
NC_000010.10:g.105794370G>A , CM000672.1:g.105794370G>A GRCh37
NC_000010.9:g.105784360G>A NCBI36
NG_007069.1:g.56269C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000369733.8:c.3520+9C>T ENSP00000358748.3:n.3520+9C>T
ENST00000648076.2:c.3766+9C>T MANE Select ENSP00000497653.1:n.3766+9C>T
ENST00000353479.9:c.3766+9C>T ENSP00000340937.5:n.3766+9C>T
ENST00000369733.7:c.3520+9C>T ENSP00000358748.3:n.3520+9C>T
NM_000494.3:c.3766+9C>T NP_000485.3:n.3766+9C>T
NM_000494.4:c.3766+9C>T MANE Select NP_000485.3:n.3766+9C>T
Search 100 bp 5'
Search 100 bp 3'