Canonical Allele Identifier: CA414132696

Gene: COL4A5

Linked Data

• MyVariant Identifiers: chrX:g.107938524G>T (hg19) ; chrX:g.108695294G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.108695294G>T , CM000685.2:g.108695294G>T	GRCh38
NC_000023.10:g.107938524G>T , CM000685.1:g.107938524G>T	GRCh37
NC_000023.9:g.107825180G>T	NCBI36
NG_011977.1:g.260371G>T
NG_011977.2:g.260371G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000328300.11:c.4849G>T MANE Select	ENSP00000331902.7:p.Gly1617Cys
ENST00000361603.7:c.4831G>T	ENSP00000354505.2:p.Gly1611Cys
ENST00000510690.2:n.1343G>T
ENST00000644079.1:n.1680G>T
ENST00000328300.10:c.4849G>T	ENSP00000331902.6:p.Gly1617Cys
ENST00000361603.6:c.4831G>T	ENSP00000354505.2:p.Gly1611Cys
ENST00000504541.1:c.219+373G>T	ENSP00000424845.1:n.219+373G>T
ENST00000515658.1:c.325-1003G>T
NM_000495.4:c.4831G>T	NP_000486.1:p.Gly1611Cys
NM_033380.2:c.4849G>T	NP_203699.1:p.Gly1617Cys
XM_005262070.2:c.4840G>T	XP_005262127.1:p.Gly1614Cys
XM_006724616.2:c.4849G>T	XP_006724679.1:p.Gly1617Cys
XM_011530849.1:c.4525G>T	XP_011529151.1:p.Gly1509Cys
XM_011530851.1:c.2422G>T	XP_011529153.1:p.Gly808Cys
XM_011530849.2:c.4864G>T	XP_011529151.2:p.Gly1622Cys
XM_017029259.2:c.4855G>T	XP_016884748.1:p.Gly1619Cys
XM_017029260.1:c.4846G>T	XP_016884749.1:p.Gly1616Cys
XM_017029263.2:c.3184G>T	XP_016884752.1:p.Gly1062Cys
NM_000495.5:c.4831G>T	NP_000486.1:p.Gly1611Cys
NM_033380.3:c.4849G>T MANE Select	NP_203699.1:p.Gly1617Cys