Canonical Allele Identifier: CA413853744

Gene: COL4A5

Linked Data

• MyVariant Identifiers: chrX:g.107929332G>T (hg19) ; chrX:g.108686102G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.108686102G>T , CM000685.2:g.108686102G>T	GRCh38
NC_000023.10:g.107929332G>T , CM000685.1:g.107929332G>T	GRCh37
NC_000023.9:g.107815988G>T	NCBI36
NG_011977.1:g.251179G>T
NG_011977.2:g.251179G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000328300.11:c.4288G>T MANE Select	ENSP00000331902.7:p.Gly1430Ter
ENST00000361603.7:c.4270G>T	ENSP00000354505.2:p.Gly1424Ter
ENST00000510690.2:n.782G>T
ENST00000328300.10:c.4288G>T	ENSP00000331902.6:p.Gly1430Ter
ENST00000361603.6:c.4270G>T	ENSP00000354505.2:p.Gly1424Ter
ENST00000489230.1:n.691G>T
ENST00000515658.1:c.84G>T
NM_000495.4:c.4270G>T	NP_000486.1:p.Gly1424Ter
NM_033380.2:c.4288G>T	NP_203699.1:p.Gly1430Ter
XM_005262070.2:c.4279G>T	XP_005262127.1:p.Gly1427Ter
XM_006724616.2:c.4288G>T	XP_006724679.1:p.Gly1430Ter
XM_011530849.1:c.3964G>T	XP_011529151.1:p.Gly1322Ter
XM_011530851.1:c.1861G>T	XP_011529153.1:p.Gly621Ter
XM_011530849.2:c.4303G>T	XP_011529151.2:p.Gly1435Ter
XM_017029259.2:c.4294G>T	XP_016884748.1:p.Gly1432Ter
XM_017029260.1:c.4285G>T	XP_016884749.1:p.Gly1429Ter
XM_017029263.2:c.2623G>T	XP_016884752.1:p.Gly875Ter
NM_000495.5:c.4270G>T	NP_000486.1:p.Gly1424Ter
NM_033380.3:c.4288G>T MANE Select	NP_203699.1:p.Gly1430Ter