Canonical Allele Identifier: CA212425612
Gene: COL17A1 HGNC NCBI

Linked Data

dbSNP Id: rs866005254
MyVariant Identifiers: chr10:g.105824359A>G (hg19) chr10:g.104064601A>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.104064601A>G , CM000672.2:g.104064601A>G GRCh38
NC_000010.10:g.105824359A>G , CM000672.1:g.105824359A>G GRCh37
NC_000010.9:g.105814349A>G NCBI36
NG_007069.1:g.26280T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000369733.8:c.608-5T>C ENSP00000358748.3:n.608-5T>C
ENST00000648076.2:c.608-5T>C MANE Select ENSP00000497653.1:n.608-5T>C
ENST00000649118.1:n.723-5T>C
ENST00000650263.1:c.560-5T>C ENSP00000497850.1:n.560-5T>C
ENST00000353479.9:c.608-5T>C ENSP00000340937.5:n.608-5T>C
ENST00000369733.7:c.608-5T>C ENSP00000358748.3:n.608-5T>C
ENST00000393211.3:c.608-5T>C ENSP00000376905.3:n.608-5T>C
NM_000494.3:c.608-5T>C NP_000485.3:n.608-5T>C
NM_000494.4:c.608-5T>C MANE Select NP_000485.3:n.608-5T>C
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