Canonical Allele Identifier: CA471502777
Gene: COL17A1 HGNC NCBI

Linked Data

MyVariant Identifiers: chr10:g.105793854A>G (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.104034096A>G , CM000672.2:g.104034096A>G GRCh38
NC_000010.10:g.105793854A>G , CM000672.1:g.105793854A>G GRCh37
NC_000010.9:g.105783844A>G NCBI36
NG_007069.1:g.56785T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000369733.8:c.3759T>C ENSP00000358748.3:p.Gly1253=
ENST00000647647.1:c.35T>C
ENST00000648076.2:c.4005T>C MANE Select ENSP00000497653.1:p.Gly1335=
ENST00000353479.9:c.4005T>C ENSP00000340937.5:p.Gly1335=
ENST00000369733.7:c.3759T>C ENSP00000358748.3:p.Gly1253=
NM_000494.3:c.4005T>C NP_000485.3:p.Gly1335=
NM_000494.4:c.4005T>C MANE Select NP_000485.3:p.Gly1335=