Canonical Allele Identifier: CA378077719

Gene: COL17A1

Linked Data

• ClinVar Variation Id: 1235587
• ClinVar RCV Id: RCV001618128
• dbSNP Id: rs2134635412
• gnomAD v4: 10-104064588-T-C
• MyVariant Identifiers: chr10:g.105824346T>C (hg19) ; chr10:g.104064588T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.104064588T>C , CM000672.2:g.104064588T>C	GRCh38
NC_000010.10:g.105824346T>C , CM000672.1:g.105824346T>C	GRCh37
NC_000010.9:g.105814336T>C	NCBI36
NG_007069.1:g.26293A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000369733.8:c.616A>G	ENSP00000358748.3:p.Thr206Ala
ENST00000648076.2:c.616A>G MANE Select	ENSP00000497653.1:p.Thr206Ala
ENST00000649118.1:n.731A>G
ENST00000650263.1:c.568A>G	ENSP00000497850.1:p.Thr190Ala
ENST00000353479.9:c.616A>G	ENSP00000340937.5:p.Thr206Ala
ENST00000369733.7:c.616A>G	ENSP00000358748.3:p.Thr206Ala
ENST00000393211.3:c.616A>G	ENSP00000376905.3:p.Thr206Ala
NM_000494.3:c.616A>G	NP_000485.3:p.Thr206Ala
NM_000494.4:c.616A>G MANE Select	NP_000485.3:p.Thr206Ala