Canonical Allele Identifier: CA869827701

Gene: COL4A5

Linked Data

• dbSNP Id: rs1204927287
• MyVariant Identifiers: chrX:g.107938375T>C (hg19) ; chrX:g.108695145T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.108695145T>C , CM000685.2:g.108695145T>C	GRCh38
NC_000023.10:g.107938375T>C , CM000685.1:g.107938375T>C	GRCh37
NC_000023.9:g.107825031T>C	NCBI36
NG_011977.1:g.260222T>C
NG_011977.2:g.260222T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000328300.11:c.4822-122T>C MANE Select	ENSP00000331902.7:n.4822-122T>C
ENST00000361603.7:c.4804-122T>C	ENSP00000354505.2:n.4804-122T>C
ENST00000510690.2:n.1316-122T>C
ENST00000644079.1:n.1531T>C
ENST00000328300.10:c.4822-122T>C	ENSP00000331902.6:n.4822-122T>C
ENST00000361603.6:c.4804-122T>C	ENSP00000354505.2:n.4804-122T>C
ENST00000504541.1:c.219+224T>C	ENSP00000424845.1:n.219+224T>C
ENST00000515658.1:c.325-1152T>C
NM_000495.4:c.4804-122T>C	NP_000486.1:n.4804-122T>C
NM_033380.2:c.4822-122T>C	NP_203699.1:n.4822-122T>C
XM_005262070.2:c.4813-122T>C	XP_005262127.1:n.4813-122T>C
XM_006724616.2:c.4822-122T>C	XP_006724679.1:n.4822-122T>C
XM_011530849.1:c.4498-122T>C	XP_011529151.1:n.4498-122T>C
XM_011530851.1:c.2395-122T>C	XP_011529153.1:n.2395-122T>C
XM_011530849.2:c.4837-122T>C	XP_011529151.2:n.4837-122T>C
XM_017029259.2:c.4828-122T>C	XP_016884748.1:n.4828-122T>C
XM_017029260.1:c.4819-122T>C	XP_016884749.1:n.4819-122T>C
XM_017029263.2:c.3157-122T>C	XP_016884752.1:n.3157-122T>C
NM_000495.5:c.4804-122T>C	NP_000486.1:n.4804-122T>C
NM_033380.3:c.4822-122T>C MANE Select	NP_203699.1:n.4822-122T>C