Canonical Allele Identifier: CA471502794
Gene: COL17A1 HGNC NCBI

Linked Data

dbSNP Id: rs1481024091
gnomAD v2: 10-105793863-T-G
gnomAD v4: 10-104034105-T-G
MyVariant Identifiers: chr10:g.105793863T>G (hg19) chr10:g.104034105T>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.104034105T>G , CM000672.2:g.104034105T>G GRCh38
NC_000010.10:g.105793863T>G , CM000672.1:g.105793863T>G GRCh37
NC_000010.9:g.105783853T>G NCBI36
NG_007069.1:g.56776A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000369733.8:c.3750A>C ENSP00000358748.3:p.Gly1250=
ENST00000647647.1:c.26A>C
ENST00000648076.2:c.3996A>C MANE Select ENSP00000497653.1:p.Gly1332=
ENST00000353479.9:c.3996A>C ENSP00000340937.5:p.Gly1332=
ENST00000369733.7:c.3750A>C ENSP00000358748.3:p.Gly1250=
NM_000494.3:c.3996A>C NP_000485.3:p.Gly1332=
NM_000494.4:c.3996A>C MANE Select NP_000485.3:p.Gly1332=
Search 100 bp 5'
Search 100 bp 3'