Canonical Allele Identifier: CA2610803455

Gene: COL17A1

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.104060114C>A , CM000672.2:g.104060114C>A	GRCh38
NC_000010.10:g.105819872C>A , CM000672.1:g.105819872C>A	GRCh37
NC_000010.9:g.105809862C>A	NCBI36
NG_007069.1:g.30767G>T

Transcript Alleles

HGVS	Amino-acid Change
NM_000494.4:c.1141+5G>T MANE Select	NP_000485.3:n.1141+5G>T
ENST00000648076.2:c.1141+5G>T MANE Select	ENSP00000497653.1:n.1141+5G>T
NM_000494.3:c.1141+5G>T	NP_000485.3:n.1141+5G>T
ENST00000353479.9:c.1141+5G>T	ENSP00000340937.5:n.1141+5G>T
ENST00000369733.7:c.1141+5G>T	ENSP00000358748.3:n.1141+5G>T
ENST00000369733.8:c.1141+5G>T	ENSP00000358748.3:n.1141+5G>T
ENST00000393211.3:c.1141+5G>T	ENSP00000376905.3:n.1141+5G>T
ENST00000488320.1:n.592+5G>T
ENST00000650263.1:c.1093+5G>T	ENSP00000497850.1:n.1093+5G>T