Canonical Allele Identifier: CA378067199
Gene: COL17A1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.104037695A>C , CM000672.2:g.104037695A>C GRCh38
NC_000010.10:g.105797453A>C , CM000672.1:g.105797453A>C GRCh37
NC_000010.9:g.105787443A>C NCBI36
NG_007069.1:g.53186T>G

Transcript Alleles

HGVS Amino-acid change
ENST00000369733.8:c.3014T>G ENSP00000358748.3:p.Ile1005Ser
ENST00000648076.2:c.3149T>G MANE Select ENSP00000497653.1:p.Ile1050Ser
ENST00000353479.9:c.3149T>G ENSP00000340937.5:p.Ile1050Ser
ENST00000369733.7:c.3014T>G ENSP00000358748.3:p.Ile1005Ser
NM_000494.3:c.3149T>G NP_000485.3:p.Ile1050Ser
NM_000494.4:c.3149T>G MANE Select NP_000485.3:p.Ile1050Ser