Canonical Allele Identifier: CA378077261

Gene: COL17A1

Linked Data

• MyVariant Identifiers: chr10:g.105824237C>T (hg19) ; chr10:g.104064479C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.104064479C>T , CM000672.2:g.104064479C>T	GRCh38
NC_000010.10:g.105824237C>T , CM000672.1:g.105824237C>T	GRCh37
NC_000010.9:g.105814227C>T	NCBI36
NG_007069.1:g.26402G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000369733.8:c.725G>A	ENSP00000358748.3:p.Ser242Asn
ENST00000648076.2:c.725G>A MANE Select	ENSP00000497653.1:p.Ser242Asn
ENST00000649118.1:n.840G>A
ENST00000650263.1:c.677G>A	ENSP00000497850.1:p.Ser226Asn
ENST00000353479.9:c.725G>A	ENSP00000340937.5:p.Ser242Asn
ENST00000369733.7:c.725G>A	ENSP00000358748.3:p.Ser242Asn
ENST00000393211.3:c.725G>A	ENSP00000376905.3:p.Ser242Asn
ENST00000488320.1:n.70G>A
NM_000494.3:c.725G>A	NP_000485.3:p.Ser242Asn
NM_000494.4:c.725G>A MANE Select	NP_000485.3:p.Ser242Asn