Canonical Allele Identifier: CA378067200
Gene: COL17A1 HGNC NCBI

Linked Data

dbSNP Id: rs1264028100
gnomAD v2: 10-105797453-A-G
gnomAD v3: 10-104037695-A-G
gnomAD v4: 10-104037695-A-G
MyVariant Identifiers: chr10:g.105797453A>G (hg19) chr10:g.104037695A>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.104037695A>G , CM000672.2:g.104037695A>G GRCh38
NC_000010.10:g.105797453A>G , CM000672.1:g.105797453A>G GRCh37
NC_000010.9:g.105787443A>G NCBI36
NG_007069.1:g.53186T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000369733.8:c.3014T>C ENSP00000358748.3:p.Ile1005Thr
ENST00000648076.2:c.3149T>C MANE Select ENSP00000497653.1:p.Ile1050Thr
ENST00000353479.9:c.3149T>C ENSP00000340937.5:p.Ile1050Thr
ENST00000369733.7:c.3014T>C ENSP00000358748.3:p.Ile1005Thr
NM_000494.3:c.3149T>C NP_000485.3:p.Ile1050Thr
NM_000494.4:c.3149T>C MANE Select NP_000485.3:p.Ile1050Thr
Search 100 bp 5'
Search 100 bp 3'