Canonical Allele Identifier: CA378077321

Gene: COL17A1

Linked Data

• dbSNP Id: rs1188645009
• gnomAD v2: 10-105824253-T-C
• MyVariant Identifiers: chr10:g.105824253T>C (hg19) ; chr10:g.104064495T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.104064495T>C , CM000672.2:g.104064495T>C	GRCh38
NC_000010.10:g.105824253T>C , CM000672.1:g.105824253T>C	GRCh37
NC_000010.9:g.105814243T>C	NCBI36
NG_007069.1:g.26386A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000369733.8:c.709A>G	ENSP00000358748.3:p.Asn237Asp
ENST00000648076.2:c.709A>G MANE Select	ENSP00000497653.1:p.Asn237Asp
ENST00000649118.1:n.824A>G
ENST00000650263.1:c.661A>G	ENSP00000497850.1:p.Asn221Asp
ENST00000353479.9:c.709A>G	ENSP00000340937.5:p.Asn237Asp
ENST00000369733.7:c.709A>G	ENSP00000358748.3:p.Asn237Asp
ENST00000393211.3:c.709A>G	ENSP00000376905.3:p.Asn237Asp
ENST00000488320.1:n.54A>G
NM_000494.3:c.709A>G	NP_000485.3:p.Asn237Asp
NM_000494.4:c.709A>G MANE Select	NP_000485.3:p.Asn237Asp