Canonical Allele Identifier: CA378067338
Gene: COL17A1 HGNC NCBI

Linked Data

MyVariant Identifiers: chr10:g.105797523T>G (hg19) chr10:g.104037765T>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.104037765T>G , CM000672.2:g.104037765T>G GRCh38
NC_000010.10:g.105797523T>G , CM000672.1:g.105797523T>G GRCh37
NC_000010.9:g.105787513T>G NCBI36
NG_007069.1:g.53116A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000369733.8:c.2944A>C ENSP00000358748.3:p.Ile982Leu
ENST00000648076.2:c.3079A>C MANE Select ENSP00000497653.1:p.Ile1027Leu
ENST00000353479.9:c.3079A>C ENSP00000340937.5:p.Ile1027Leu
ENST00000369733.7:c.2944A>C ENSP00000358748.3:p.Ile982Leu
NM_000494.3:c.3079A>C NP_000485.3:p.Ile1027Leu
NM_000494.4:c.3079A>C MANE Select NP_000485.3:p.Ile1027Leu
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