Canonical Allele Identifier: CA378077246

Gene: COL17A1

Linked Data

• MyVariant Identifiers: chr10:g.105824234G>C (hg19) ; chr10:g.104064476G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.104064476G>C , CM000672.2:g.104064476G>C	GRCh38
NC_000010.10:g.105824234G>C , CM000672.1:g.105824234G>C	GRCh37
NC_000010.9:g.105814224G>C	NCBI36
NG_007069.1:g.26405C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000369733.8:c.728C>G	ENSP00000358748.3:p.Ser243Ter
ENST00000648076.2:c.728C>G MANE Select	ENSP00000497653.1:p.Ser243Ter
ENST00000649118.1:n.843C>G
ENST00000650263.1:c.680C>G	ENSP00000497850.1:p.Ser227Ter
ENST00000353479.9:c.728C>G	ENSP00000340937.5:p.Ser243Ter
ENST00000369733.7:c.728C>G	ENSP00000358748.3:p.Ser243Ter
ENST00000393211.3:c.728C>G	ENSP00000376905.3:p.Ser243Ter
ENST00000488320.1:n.73C>G
NM_000494.3:c.728C>G	NP_000485.3:p.Ser243Ter
NM_000494.4:c.728C>G MANE Select	NP_000485.3:p.Ser243Ter