Canonical Allele Identifier: CA378067146
Gene: COL17A1 HGNC NCBI

Linked Data

gnomAD v4: 10-104037669-C-T
MyVariant Identifiers: chr10:g.105797427C>T (hg19) chr10:g.104037669C>T (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.104037669C>T , CM000672.2:g.104037669C>T GRCh38
NC_000010.10:g.105797427C>T , CM000672.1:g.105797427C>T GRCh37
NC_000010.9:g.105787417C>T NCBI36
NG_007069.1:g.53212G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000369733.8:c.3040G>A ENSP00000358748.3:p.Glu1014Lys
ENST00000648076.2:c.3175G>A MANE Select ENSP00000497653.1:p.Glu1059Lys
ENST00000353479.9:c.3175G>A ENSP00000340937.5:p.Glu1059Lys
ENST00000369733.7:c.3040G>A ENSP00000358748.3:p.Glu1014Lys
NM_000494.3:c.3175G>A NP_000485.3:p.Glu1059Lys
NM_000494.4:c.3175G>A MANE Select NP_000485.3:p.Glu1059Lys
Search 100 bp 5'
Search 100 bp 3'