Canonical Allele Identifier: CA378070089
Gene: COL17A1 HGNC NCBI

Linked Data

dbSNP Id: rs1306358632
gnomAD v3: 10-104053084-A-G
gnomAD v4: 10-104053084-A-G
MyVariant Identifiers: chr10:g.105812842A>G (hg19) chr10:g.104053084A>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.104053084A>G , CM000672.2:g.104053084A>G GRCh38
NC_000010.10:g.105812842A>G , CM000672.1:g.105812842A>G GRCh37
NC_000010.9:g.105802832A>G NCBI36
NG_007069.1:g.37797T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000369733.8:c.1886T>C ENSP00000358748.3:p.Met629Thr
ENST00000648076.2:c.1886T>C MANE Select ENSP00000497653.1:p.Met629Thr
ENST00000353479.9:c.1886T>C ENSP00000340937.5:p.Met629Thr
ENST00000369733.7:c.1886T>C ENSP00000358748.3:p.Met629Thr
NM_000494.3:c.1886T>C NP_000485.3:p.Met629Thr
NM_000494.4:c.1886T>C MANE Select NP_000485.3:p.Met629Thr
Search 100 bp 5'
Search 100 bp 3'