Canonical Allele Identifier: CA334058304

Gene: COL4A5

Linked Data

• dbSNP Id: rs938299702
• gnomAD v4: X-108686019-C-A
• MyVariant Identifiers: chrX:g.107929249C>A (hg19) ; chrX:g.108686019C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.108686019C>A , CM000685.2:g.108686019C>A	GRCh38
NC_000023.10:g.107929249C>A , CM000685.1:g.107929249C>A	GRCh37
NC_000023.9:g.107815905C>A	NCBI36
NG_011977.1:g.251096C>A
NG_011977.2:g.251096C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000328300.11:c.4217-12C>A MANE Select	ENSP00000331902.7:n.4217-12C>A
ENST00000361603.7:c.4199-12C>A	ENSP00000354505.2:n.4199-12C>A
ENST00000510690.2:n.711-12C>A
ENST00000328300.10:c.4217-12C>A	ENSP00000331902.6:n.4217-12C>A
ENST00000361603.6:c.4199-12C>A	ENSP00000354505.2:n.4199-12C>A
ENST00000489230.1:n.620-12C>A
ENST00000515658.1:c.13-12C>A
NM_000495.4:c.4199-12C>A	NP_000486.1:n.4199-12C>A
NM_033380.2:c.4217-12C>A	NP_203699.1:n.4217-12C>A
XM_005262070.2:c.4208-12C>A	XP_005262127.1:n.4208-12C>A
XM_006724616.2:c.4217-12C>A	XP_006724679.1:n.4217-12C>A
XM_011530849.1:c.3893-12C>A	XP_011529151.1:n.3893-12C>A
XM_011530851.1:c.1790-12C>A	XP_011529153.1:n.1790-12C>A
XM_011530849.2:c.4232-12C>A	XP_011529151.2:n.4232-12C>A
XM_017029259.2:c.4223-12C>A	XP_016884748.1:n.4223-12C>A
XM_017029260.1:c.4214-12C>A	XP_016884749.1:n.4214-12C>A
XM_017029263.2:c.2552-12C>A	XP_016884752.1:n.2552-12C>A
NM_000495.5:c.4199-12C>A	NP_000486.1:n.4199-12C>A
NM_033380.3:c.4217-12C>A MANE Select	NP_203699.1:n.4217-12C>A