Canonical Allele Identifier: CA378065408
Gene: COL17A1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.104034166C>T , CM000672.2:g.104034166C>T GRCh38
NC_000010.10:g.105793924C>T , CM000672.1:g.105793924C>T GRCh37
NC_000010.9:g.105783914C>T NCBI36
NG_007069.1:g.56715G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000369733.8:c.3689G>A ENSP00000358748.3:p.Ser1230Asn
ENST00000648076.2:c.3935G>A MANE Select ENSP00000497653.1:p.Ser1312Asn
ENST00000353479.9:c.3935G>A ENSP00000340937.5:p.Ser1312Asn
ENST00000369733.7:c.3689G>A ENSP00000358748.3:p.Ser1230Asn
NM_000494.3:c.3935G>A NP_000485.3:p.Ser1312Asn
NM_000494.4:c.3935G>A MANE Select NP_000485.3:p.Ser1312Asn