Canonical Allele Identifier: CA378067193
Gene: COL17A1 HGNC NCBI

Linked Data

MyVariant Identifiers: chr10:g.105797450G>T (hg19) chr10:g.104037692G>T (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.104037692G>T , CM000672.2:g.104037692G>T GRCh38
NC_000010.10:g.105797450G>T , CM000672.1:g.105797450G>T GRCh37
NC_000010.9:g.105787440G>T NCBI36
NG_007069.1:g.53189C>A

Transcript Alleles

HGVS Amino-acid change
ENST00000369733.8:c.3017C>A ENSP00000358748.3:p.Thr1006Lys
ENST00000648076.2:c.3152C>A MANE Select ENSP00000497653.1:p.Thr1051Lys
ENST00000353479.9:c.3152C>A ENSP00000340937.5:p.Thr1051Lys
ENST00000369733.7:c.3017C>A ENSP00000358748.3:p.Thr1006Lys
NM_000494.3:c.3152C>A NP_000485.3:p.Thr1051Lys
NM_000494.4:c.3152C>A MANE Select NP_000485.3:p.Thr1051Lys
Search 100 bp 5'
Search 100 bp 3'