Canonical Allele Identifier: CA378065258
Gene: COL17A1 HGNC NCBI

Linked Data

dbSNP Id: rs2134563605
MyVariant Identifiers: chr10:g.105793873T>G (hg19) chr10:g.104034115T>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.104034115T>G , CM000672.2:g.104034115T>G GRCh38
NC_000010.10:g.105793873T>G , CM000672.1:g.105793873T>G GRCh37
NC_000010.9:g.105783863T>G NCBI36
NG_007069.1:g.56766A>C

Transcript Alleles

HGVS Amino-acid change
ENST00000369733.8:c.3740A>C ENSP00000358748.3:p.Glu1247Ala
ENST00000647647.1:c.16A>C
ENST00000648076.2:c.3986A>C MANE Select ENSP00000497653.1:p.Glu1329Ala
ENST00000353479.9:c.3986A>C ENSP00000340937.5:p.Glu1329Ala
ENST00000369733.7:c.3740A>C ENSP00000358748.3:p.Glu1247Ala
NM_000494.3:c.3986A>C NP_000485.3:p.Glu1329Ala
NM_000494.4:c.3986A>C MANE Select NP_000485.3:p.Glu1329Ala
Search 100 bp 5'
Search 100 bp 3'