Canonical Allele Identifier: CA471338821
Gene: COL17A1 HGNC NCBI

Linked Data

MyVariant Identifiers: chr10:g.105824242G>C (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.104064484G>C , CM000672.2:g.104064484G>C GRCh38
NC_000010.10:g.105824242G>C , CM000672.1:g.105824242G>C GRCh37
NC_000010.9:g.105814232G>C NCBI36
NG_007069.1:g.26397C>G

Transcript Alleles

HGVS Amino-acid change
ENST00000369733.8:c.720C>G ENSP00000358748.3:p.Thr240=
ENST00000648076.2:c.720C>G MANE Select ENSP00000497653.1:p.Thr240=
ENST00000649118.1:n.835C>G
ENST00000650263.1:c.672C>G ENSP00000497850.1:p.Thr224=
ENST00000353479.9:c.720C>G ENSP00000340937.5:p.Thr240=
ENST00000369733.7:c.720C>G ENSP00000358748.3:p.Thr240=
ENST00000393211.3:c.720C>G ENSP00000376905.3:p.Thr240=
ENST00000488320.1:n.65C>G
NM_000494.3:c.720C>G NP_000485.3:p.Thr240=
NM_000494.4:c.720C>G MANE Select NP_000485.3:p.Thr240=