Canonical Allele Identifier: CA1933403167
Gene: COL17A1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.104053185A= , CM000672.2:g.104053185A= GRCh38
NC_000010.10:g.105812943A= , CM000672.1:g.105812943A= GRCh37
NC_000010.9:g.105802933A= NCBI36
NG_007069.1:g.37696T=

Transcript Alleles

HGVS Amino-acid Change
ENST00000369733.8:c.1835-50T= ENSP00000358748.3:n.1835-50T=
ENST00000648076.2:c.1835-50T= MANE Select ENSP00000497653.1:n.1835-50T=
ENST00000650263.1:c.1787-50T= ENSP00000497850.1:n.1787-50T=
ENST00000353479.9:c.1835-50T= ENSP00000340937.5:n.1835-50T=
ENST00000369733.7:c.1835-50T= ENSP00000358748.3:n.1835-50T=
NM_000494.3:c.1835-50T= NP_000485.3:n.1835-50T=
NM_000494.4:c.1835-50T= MANE Select NP_000485.3:n.1835-50T=