Canonical Allele Identifier: CA212417507
Gene: COL17A1 HGNC NCBI

Linked Data

dbSNP Id: rs943909339
gnomAD v2: 10-105812943-A-G
MyVariant Identifiers: chr10:g.105812943A>G (hg19) chr10:g.104053185A>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.104053185A>G , CM000672.2:g.104053185A>G GRCh38
NC_000010.10:g.105812943A>G , CM000672.1:g.105812943A>G GRCh37
NC_000010.9:g.105802933A>G NCBI36
NG_007069.1:g.37696T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000369733.8:c.1835-50T>C ENSP00000358748.3:n.1835-50T>C
ENST00000648076.2:c.1835-50T>C MANE Select ENSP00000497653.1:n.1835-50T>C
ENST00000650263.1:c.1787-50T>C ENSP00000497850.1:n.1787-50T>C
ENST00000353479.9:c.1835-50T>C ENSP00000340937.5:n.1835-50T>C
ENST00000369733.7:c.1835-50T>C ENSP00000358748.3:n.1835-50T>C
NM_000494.3:c.1835-50T>C NP_000485.3:n.1835-50T>C
NM_000494.4:c.1835-50T>C MANE Select NP_000485.3:n.1835-50T>C
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