Canonical Allele Identifier: CA1933420761
Gene: COL17A1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.104037654C= , CM000672.2:g.104037654C= GRCh38
NC_000010.10:g.105797412C= , CM000672.1:g.105797412C= GRCh37
NC_000010.9:g.105787402C= NCBI36
NG_007069.1:g.53227G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000369733.8:c.3055G= ENSP00000358748.3:p.Val1019=
ENST00000648076.2:c.3190G= MANE Select ENSP00000497653.1:p.Val1064=
ENST00000353479.9:c.3190G= ENSP00000340937.5:p.Val1064=
ENST00000369733.7:c.3055G= ENSP00000358748.3:p.Val1019=
NM_000494.3:c.3190G= NP_000485.3:p.Val1064=
NM_000494.4:c.3190G= MANE Select NP_000485.3:p.Val1064=