Canonical Allele Identifier: CA471341877
Gene: COL17A1 HGNC NCBI

Linked Data

MyVariant Identifiers: chr10:g.105794389G>A (hg19)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.104034631G>A , CM000672.2:g.104034631G>A GRCh38
NC_000010.10:g.105794389G>A , CM000672.1:g.105794389G>A GRCh37
NC_000010.9:g.105784379G>A NCBI36
NG_007069.1:g.56250C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000369733.8:c.3510C>T ENSP00000358748.3:p.Ser1170=
ENST00000648076.2:c.3756C>T MANE Select ENSP00000497653.1:p.Ser1252=
ENST00000353479.9:c.3756C>T ENSP00000340937.5:p.Ser1252=
ENST00000369733.7:c.3510C>T ENSP00000358748.3:p.Ser1170=
NM_000494.3:c.3756C>T NP_000485.3:p.Ser1252=
NM_000494.4:c.3756C>T MANE Select NP_000485.3:p.Ser1252=
Search 100 bp 5'
Search 100 bp 3'