Canonical Allele Identifier: CA1933418534
Gene: COL17A1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.104034318G= , CM000672.2:g.104034318G= GRCh38
NC_000010.10:g.105794076G= , CM000672.1:g.105794076G= GRCh37
NC_000010.9:g.105784066G= NCBI36
NG_007069.1:g.56563C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000369733.8:c.3537C= ENSP00000358748.3:p.Ser1179=
ENST00000648076.2:c.3783C= MANE Select ENSP00000497653.1:p.Ser1261=
ENST00000353479.9:c.3783C= ENSP00000340937.5:p.Ser1261=
ENST00000369733.7:c.3537C= ENSP00000358748.3:p.Ser1179=
NM_000494.3:c.3783C= NP_000485.3:p.Ser1261=
NM_000494.4:c.3783C= MANE Select NP_000485.3:p.Ser1261=