Canonical Allele Identifier: CA1933418544
Gene: COL17A1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.104034330A= , CM000672.2:g.104034330A= GRCh38
NC_000010.10:g.105794088A= , CM000672.1:g.105794088A= GRCh37
NC_000010.9:g.105784078A= NCBI36
NG_007069.1:g.56551T=

Transcript Alleles

HGVS Amino-acid Change
ENST00000369733.8:c.3525T= ENSP00000358748.3:p.Pro1175=
ENST00000648076.2:c.3771T= MANE Select ENSP00000497653.1:p.Pro1257=
ENST00000353479.9:c.3771T= ENSP00000340937.5:p.Pro1257=
ENST00000369733.7:c.3525T= ENSP00000358748.3:p.Pro1175=
NM_000494.3:c.3771T= NP_000485.3:p.Pro1257=
NM_000494.4:c.3771T= MANE Select NP_000485.3:p.Pro1257=