Canonical Allele Identifier: CA378066088
Gene: COL17A1 HGNC NCBI

Linked Data

dbSNP Id: rs1224701758
gnomAD v2: 10-105794474-C-T
COSMIC: COSM1675534
MyVariant Identifiers: chr10:g.105794474C>T (hg19) chr10:g.104034716C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.104034716C>T , CM000672.2:g.104034716C>T GRCh38
NC_000010.10:g.105794474C>T , CM000672.1:g.105794474C>T GRCh37
NC_000010.9:g.105784464C>T NCBI36
NG_007069.1:g.56165G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000369733.8:c.3425G>A ENSP00000358748.3:p.Gly1142Glu
ENST00000648076.2:c.3671G>A MANE Select ENSP00000497653.1:p.Gly1224Glu
ENST00000353479.9:c.3671G>A ENSP00000340937.5:p.Gly1224Glu
ENST00000369733.7:c.3425G>A ENSP00000358748.3:p.Gly1142Glu
NM_000494.3:c.3671G>A NP_000485.3:p.Gly1224Glu
NM_000494.4:c.3671G>A MANE Select NP_000485.3:p.Gly1224Glu
Search 100 bp 5'
Search 100 bp 3'