Canonical Allele Identifier: CA471341866
Gene: COL17A1 HGNC NCBI

Linked Data

MyVariant Identifiers: chr10:g.105794380T>G (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.104034622T>G , CM000672.2:g.104034622T>G GRCh38
NC_000010.10:g.105794380T>G , CM000672.1:g.105794380T>G GRCh37
NC_000010.9:g.105784370T>G NCBI36
NG_007069.1:g.56259A>C

Transcript Alleles

HGVS Amino-acid change
ENST00000369733.8:c.3519A>C ENSP00000358748.3:p.Thr1173=
ENST00000648076.2:c.3765A>C MANE Select ENSP00000497653.1:p.Thr1255=
ENST00000353479.9:c.3765A>C ENSP00000340937.5:p.Thr1255=
ENST00000369733.7:c.3519A>C ENSP00000358748.3:p.Thr1173=
NM_000494.3:c.3765A>C NP_000485.3:p.Thr1255=
NM_000494.4:c.3765A>C MANE Select NP_000485.3:p.Thr1255=