Canonical Allele Identifier: CA378067188
Gene: COL17A1 HGNC NCBI

Linked Data

dbSNP Id: rs1478825167
gnomAD v2: 10-105797447-C-T
gnomAD v4: 10-104037689-C-T
MyVariant Identifiers: chr10:g.105797447C>T (hg19) chr10:g.104037689C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.104037689C>T , CM000672.2:g.104037689C>T GRCh38
NC_000010.10:g.105797447C>T , CM000672.1:g.105797447C>T GRCh37
NC_000010.9:g.105787437C>T NCBI36
NG_007069.1:g.53192G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000369733.8:c.3020G>A ENSP00000358748.3:p.Gly1007Asp
ENST00000648076.2:c.3155G>A MANE Select ENSP00000497653.1:p.Gly1052Asp
ENST00000353479.9:c.3155G>A ENSP00000340937.5:p.Gly1052Asp
ENST00000369733.7:c.3020G>A ENSP00000358748.3:p.Gly1007Asp
NM_000494.3:c.3155G>A NP_000485.3:p.Gly1052Asp
NM_000494.4:c.3155G>A MANE Select NP_000485.3:p.Gly1052Asp
Search 100 bp 5'
Search 100 bp 3'