Canonical Allele Identifier: CA1933377741
Gene: COL17A1 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.104071997G= , CM000672.2:g.104071997G= GRCh38
NC_000010.10:g.105831755G= , CM000672.1:g.105831755G= GRCh37
NC_000010.9:g.105821745G= NCBI36
NG_007069.1:g.18884C=

Transcript Alleles

HGVS Amino-acid change
ENST00000369733.8:c.463+35C= ENSP00000358748.3:n.463+35C=
ENST00000648076.2:c.463+35C= MANE Select ENSP00000497653.1:n.463+35C=
ENST00000649118.1:n.578+35C=
ENST00000650263.1:c.415+35C= ENSP00000497850.1:n.415+35C=
ENST00000353479.9:c.463+35C= ENSP00000340937.5:n.463+35C=
ENST00000369733.7:c.463+35C= ENSP00000358748.3:n.463+35C=
ENST00000393211.3:c.463+35C= ENSP00000376905.3:n.463+35C=
ENST00000483876.1:n.513+35C=
NM_000494.3:c.463+35C= NP_000485.3:n.463+35C=
NM_000494.4:c.463+35C= MANE Select NP_000485.3:n.463+35C=
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