Canonical Allele Identifier: CA471502881

Gene: COL17A1

Linked Data

• MyVariant Identifiers: chr10:g.105793899G>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.104034141G>T , CM000672.2:g.104034141G>T	GRCh38
NC_000010.10:g.105793899G>T , CM000672.1:g.105793899G>T	GRCh37
NC_000010.9:g.105783889G>T	NCBI36
NG_007069.1:g.56740C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000369733.8:c.3714C>A	ENSP00000358748.3:p.Ser1238=
ENST00000648076.2:c.3960C>A MANE Select	ENSP00000497653.1:p.Ser1320=
ENST00000353479.9:c.3960C>A	ENSP00000340937.5:p.Ser1320=
ENST00000369733.7:c.3714C>A	ENSP00000358748.3:p.Ser1238=
NM_000494.3:c.3960C>A	NP_000485.3:p.Ser1320=
NM_000494.4:c.3960C>A MANE Select	NP_000485.3:p.Ser1320=