Canonical Allele Identifier: CA5678078

Gene: COL17A1

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.104037654C>T , CM000672.2:g.104037654C>T	GRCh38
NC_000010.10:g.105797412C>T , CM000672.1:g.105797412C>T	GRCh37
NC_000010.9:g.105787402C>T	NCBI36
NG_007069.1:g.53227G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_000494.4:c.3190G>A MANE Select	NP_000485.3:p.Val1064Ile
ENST00000648076.2:c.3190G>A MANE Select	ENSP00000497653.1:p.Val1064Ile
NM_000494.3:c.3190G>A	NP_000485.3:p.Val1064Ile
ENST00000353479.9:c.3190G>A	ENSP00000340937.5:p.Val1064Ile
ENST00000369733.7:c.3055G>A	ENSP00000358748.3:p.Val1019Ile
ENST00000369733.8:c.3055G>A	ENSP00000358748.3:p.Val1019Ile