Canonical Allele Identifier: CA1933399573
Gene: COL17A1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.104050498T= , CM000672.2:g.104050498T= GRCh38
NC_000010.10:g.105810256T= , CM000672.1:g.105810256T= GRCh37
NC_000010.9:g.105800246T= NCBI36
NG_007069.1:g.40383A=

Transcript Alleles

HGVS Amino-acid change
ENST00000369733.8:c.2128+123A= ENSP00000358748.3:n.2128+123A=
ENST00000648076.2:c.2128+123A= MANE Select ENSP00000497653.1:n.2128+123A=
ENST00000353479.9:c.2128+123A= ENSP00000340937.5:n.2128+123A=
ENST00000369733.7:c.2128+123A= ENSP00000358748.3:n.2128+123A=
NM_000494.3:c.2128+123A= NP_000485.3:n.2128+123A=
NM_000494.4:c.2128+123A= MANE Select NP_000485.3:n.2128+123A=