Canonical Allele Identifier: CA5679308

Gene: COL17A1

Linked Data

• dbSNP Id: rs760131408
• ExAC: 10:105824158 T / A
• gnomAD v2: 10-105824158-T-A
• gnomAD v4: 10-104064400-T-A
• MyVariant Identifiers: chr10:g.105824158T>A (hg19) ; chr10:g.104064400T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.104064400T>A , CM000672.2:g.104064400T>A	GRCh38
NC_000010.10:g.105824158T>A , CM000672.1:g.105824158T>A	GRCh37
NC_000010.9:g.105814148T>A	NCBI36
NG_007069.1:g.26481A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000369733.8:c.766+38A>T	ENSP00000358748.3:n.766+38A>T
ENST00000648076.2:c.766+38A>T MANE Select	ENSP00000497653.1:n.766+38A>T
ENST00000649118.1:n.881+38A>T
ENST00000650263.1:c.718+38A>T	ENSP00000497850.1:n.718+38A>T
ENST00000353479.9:c.766+38A>T	ENSP00000340937.5:n.766+38A>T
ENST00000369733.7:c.766+38A>T	ENSP00000358748.3:n.766+38A>T
ENST00000393211.3:c.766+38A>T	ENSP00000376905.3:n.766+38A>T
ENST00000488320.1:n.111+38A>T
NM_000494.3:c.766+38A>T	NP_000485.3:n.766+38A>T
NM_000494.4:c.766+38A>T MANE Select	NP_000485.3:n.766+38A>T