Canonical Allele Identifier: CA414132960

Gene: COL4A5

Linked Data

• MyVariant Identifiers: chrX:g.107938644A>G (hg19) ; chrX:g.108695414A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.108695414A>G , CM000685.2:g.108695414A>G	GRCh38
NC_000023.10:g.107938644A>G , CM000685.1:g.107938644A>G	GRCh37
NC_000023.9:g.107825300A>G	NCBI36
NG_011977.1:g.260491A>G
NG_011977.2:g.260491A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000328300.11:c.4969A>G MANE Select	ENSP00000331902.7:p.Thr1657Ala
ENST00000361603.7:c.4951A>G	ENSP00000354505.2:p.Thr1651Ala
ENST00000510690.2:n.1463A>G
ENST00000644079.1:n.1800A>G
ENST00000328300.10:c.4969A>G	ENSP00000331902.6:p.Thr1657Ala
ENST00000361603.6:c.4951A>G	ENSP00000354505.2:p.Thr1651Ala
ENST00000504541.1:c.219+493A>G	ENSP00000424845.1:n.219+493A>G
ENST00000515658.1:c.325-883A>G
NM_000495.4:c.4951A>G	NP_000486.1:p.Thr1651Ala
NM_033380.2:c.4969A>G	NP_203699.1:p.Thr1657Ala
XM_005262070.2:c.4960A>G	XP_005262127.1:p.Thr1654Ala
XM_006724616.2:c.4969A>G	XP_006724679.1:p.Thr1657Ala
XM_011530849.1:c.4645A>G	XP_011529151.1:p.Thr1549Ala
XM_011530851.1:c.2542A>G	XP_011529153.1:p.Thr848Ala
XM_011530849.2:c.4984A>G	XP_011529151.2:p.Thr1662Ala
XM_017029259.2:c.4975A>G	XP_016884748.1:p.Thr1659Ala
XM_017029260.1:c.4966A>G	XP_016884749.1:p.Thr1656Ala
XM_017029263.2:c.3304A>G	XP_016884752.1:p.Thr1102Ala
NM_000495.5:c.4951A>G	NP_000486.1:p.Thr1651Ala
NM_033380.3:c.4969A>G MANE Select	NP_203699.1:p.Thr1657Ala