Canonical Allele Identifier: CA1933418359
Gene: COL17A1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.104034204T= , CM000672.2:g.104034204T= GRCh38
NC_000010.10:g.105793962T= , CM000672.1:g.105793962T= GRCh37
NC_000010.9:g.105783952T= NCBI36
NG_007069.1:g.56677A=

Transcript Alleles

HGVS Amino-acid change
ENST00000369733.8:c.3651A= ENSP00000358748.3:p.Ser1217=
ENST00000648076.2:c.3897A= MANE Select ENSP00000497653.1:p.Ser1299=
ENST00000353479.9:c.3897A= ENSP00000340937.5:p.Ser1299=
ENST00000369733.7:c.3651A= ENSP00000358748.3:p.Ser1217=
NM_000494.3:c.3897A= NP_000485.3:p.Ser1299=
NM_000494.4:c.3897A= MANE Select NP_000485.3:p.Ser1299=